TaoMedAI/RareMedData huggingface dataset:
Gene: IGHM
Phenotype: Childhood onset (HP:0011463)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Skin rash (HP:0000988)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Epicanthus (HP:0000286)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Sinusitis (HP:0000246)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: High palate (HP:0000218)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Fatigue (HP:0012378)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Rectal abscess (HP:0005224)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHM
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Gene: IGHM
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: IGHMBP2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Areflexia of upper limbs (HP:0012046)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Tachypnea (HP:0002789)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Constipation (HP:0002019)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Ventilator dependence with inability to wean (HP:0005946)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Denervation of the diaphragm (HP:0009109)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Peripheral axonal degeneration (HP:0000764)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Diaphragmatic paralysis (HP:0006597)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Weak cry (HP:0001612)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Premature birth (HP:0001622)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Inspiratory stridor (HP:0005348)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGHMBP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 (OMIM:604320)
Gene: IGHMBP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
Gene: IGKC
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Pulmonary tuberculosis (HP:0032262)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent shingles (HP:0032275)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Sepsis (HP:0100806)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Arthritis (HP:0001369)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Epididymitis (HP:0000031)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Gene: IGKC
Phenotype: Lymphoma (HP:0002665)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Celiac disease (HP:0002608)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Food allergy (HP:0500093)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Gene: IGKC
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Gene: IGKC
Phenotype: Cerebrospinal fluid rhinorrhoea (HP:0030998)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Myalgia (HP:0003326)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Gene: IGKC
Phenotype: Liver abscess (HP:0100523)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Asthma (HP:0002099)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Pneumonia (HP:0002090)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Absent circulating immunoglobulin kappa chain (HP:6000261)
Associated disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Gene: IGKC
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Gene: IGKC
Phenotype: Recurrent streptococcal infections (HP:0020096)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Severe infection (HP:0032169)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
Gene: IGKC
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Scleroderma (HP:0100324)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Skin rash (HP:0000988)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Arthralgia (HP:0002829)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Fatigue (HP:0012378)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Bronchitis (HP:0012387)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Chronic gastritis (HP:0005231)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Viral hepatitis (HP:0006562)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)
Gene: IGKC
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Selective IgG subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency (ORPHA:183675)