Phenotype: Alopecia of scalp (HP:0002293)
Associated genes and diseases:
gene_symbol: CBS
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: MFAP5
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: IPO8
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: THSD4
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: AEBP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FKBP14
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: COL3A1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SKI
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PLOD1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PMEPA1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LTBP3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ASPH
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EMILIN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LOX
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SLC2A10
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: BGN
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ABL1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ECM1
disease_id: ORPHA:530
disease_name: Lipoid proteinosis
Hyalinosis cutis et mucosae
Urbach-Wiethe disease
gene_symbol: PKP1
disease_id: OMIM:604536
disease_name: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
gene_symbol: KLHL24
disease_id: OMIM:617294
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: SLC27A4
disease_id: OMIM:608649
disease_name: ICHTHYOSIS PREMATURITY SYNDROME
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: SASH1
disease_id: OMIM:618373
disease_name: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: TP63
disease_id: OMIM:103285
disease_name: ADULT SYNDROME
gene_symbol: KRT14
disease_id: OMIM:125595
disease_name: DERMATOPATHIA PIGMENTOSA RETICULARIS
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: OMIM:602540
disease_name: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
gene_symbol: MBTPS2
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: COL17A1
disease_id: OMIM:619787
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE
gene_symbol: COL17A1
disease_id: ORPHA:251393
disease_name: Localized junctional epidermolysis bullosa
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
gene_symbol: COL17A1
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: PLEC
disease_id: OMIM:226670
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
gene_symbol: PLEC
disease_id: ORPHA:158684
disease_name: Epidermolysis bullosa simplex with pyloric atresia
EBS with pyloric atresia
EBS-PA
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: CLDN1
disease_id: ORPHA:59303
disease_name: Neonatal ichthyosis-sclerosing cholangitis syndrome
IHSC
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
NISCH syndrome
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: LAMA3
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: LAMC2
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: LAMB3
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects