Phenotype: Acanthosis nigricans (HP:0000956)
Associated genes and diseases:
gene_symbol: KCNJ11
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: KLF11
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: GCK
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: APPL1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: BLK
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: CEL
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: NEUROD1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PDX1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: ABCC8
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PAX4
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: HNF4A
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: HNF1A
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: INS
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: BUB1
disease_id: OMIM:620183
disease_name: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SUPT16H
disease_id: ORPHA:261229
disease_name: 14q11.2 microduplication syndrome
Dup(14)(q11.2)
Trisomy 14q11.2
gene_symbol: CHD8
disease_id: ORPHA:261229
disease_name: 14q11.2 microduplication syndrome
Dup(14)(q11.2)
Trisomy 14q11.2
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: INSR
disease_id: OMIM:262190
disease_name: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: NSMCE2
disease_id: OMIM:617253
disease_name: SECKEL SYNDROME 10
gene_symbol: FGFR3
disease_id: OMIM:616482
disease_name: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
gene_symbol: FGFR3
disease_id: OMIM:612247
disease_name: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
gene_symbol: FGFR3
disease_id: ORPHA:93274
disease_name: Thanatophoric dysplasia type 2
Cloverleaf skull-micromelic bone dysplasia syndrome
TD2
Thanatophoric dwarfism type 2
Thanatophoric dwarfism-cloverleaf skull syndrome
gene_symbol: FGFR3
disease_id: ORPHA:93262
disease_name: Crouzon syndrome-acanthosis nigricans syndrome
Crouzon-dermoskeletal syndrome
gene_symbol: FGFR3
disease_id: OMIM:146000
disease_name: HYPOCHONDROPLASIA
gene_symbol: FGFR3
disease_id: ORPHA:85165
disease_name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
SADDAN
gene_symbol: FGFR3
disease_id: ORPHA:1860
disease_name: Thanatophoric dysplasia type 1
TD1
Thanatophoric dwarfism type 1
gene_symbol: FGFR3
disease_id: ORPHA:15
disease_name: Achondroplasia
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: BSCL2
disease_id: ORPHA:363400
disease_name: Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
gene_symbol: PCSK1
disease_id: ORPHA:71528
disease_name: Obesity due to prohormone convertase I deficiency
PCI deficiency
gene_symbol: MC4R
disease_id: ORPHA:71529
disease_name: Obesity due to melanocortin 4 receptor deficiency
MC4R deficiency
gene_symbol: LIPE
disease_id: ORPHA:435660
disease_name: LIPE-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
gene_symbol: LIPE
disease_id: OMIM:615980
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
gene_symbol: HSD11B1
disease_id: OMIM:614662
disease_name: CORTISONE REDUCTASE DEFICIENCY 2
gene_symbol: PKDCC
disease_id: OMIM:618821
disease_name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
gene_symbol: CIDEC
disease_id: OMIM:615238
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
gene_symbol: CIDEC
disease_id: ORPHA:435651
disease_name: CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
FPLD5
gene_symbol: POMC
disease_id: ORPHA:71526
disease_name: Obesity due to pro-opiomelanocortin deficiency
POMC deficiency
gene_symbol: CAV1
disease_id: OMIM:612526
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: PEX1
disease_id: ORPHA:3220
disease_name: Deafness-enamel hypoplasia-nail defects syndrome
Hearing loss-enamel hypoplasia-nail defects syndrome
Heimler syndrome
gene_symbol: PEX6
disease_id: ORPHA:3220
disease_name: Deafness-enamel hypoplasia-nail defects syndrome
Hearing loss-enamel hypoplasia-nail defects syndrome
Heimler syndrome
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance syndrome
gene_symbol: ESR1
disease_id: OMIM:615363
disease_name: ESTROGEN RESISTANCE
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: PLIN1
disease_id: ORPHA:280356
disease_name: PLIN1-related familial partial lipodystrophy
FPLD4
PLIN1-related FPLD
gene_symbol: PLIN1
disease_id: OMIM:613877
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
gene_symbol: PPARG
disease_id: OMIM:604367
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
gene_symbol: PPARG
disease_id: ORPHA:79083
disease_name: PPARG-related familial partial lipodystrophy
FPLD3
Familial partial lipodystrophy type 3
PPARG-related FPLD
gene_symbol: PPARG
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: JUP
disease_id: ORPHA:34217
disease_name: Naxos disease
KWWH type I
Keratoderma with woolly hair type I
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Naxos syndrome
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
gene_symbol: FGFR2
disease_id: ORPHA:1555
disease_name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: PHLDB1
disease_id: OMIM:620639
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXIII
gene_symbol: ADRA2A
disease_id: OMIM:620679
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: LMNA
disease_id: OMIM:248370
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:79084
disease_name: Familial partial lipodystrophy, Köbberling type
FPLD1
Familial partial lipodystrophy type 1
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: ORPHA:2348
disease_name: Familial partial lipodystrophy, Dunnigan type
Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2
gene_symbol: CLDN1
disease_id: ORPHA:59303
disease_name: Neonatal ichthyosis-sclerosing cholangitis syndrome
IHSC
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
NISCH syndrome
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: PSMB4
disease_id: OMIM:617591
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: COPB1
disease_id: OMIM:619255
disease_name: BARALLE-MACKEN SYNDROME
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: AKT2
disease_id: ORPHA:79085
disease_name: AKT2-related familial partial lipodystrophy
AKT2-related FPLD
gene_symbol: ERF
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: FOS
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: GPR101
disease_id: OMIM:300942
disease_name: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: HRAS
disease_id: ORPHA:3071
disease_name: Costello syndrome
FCS syndrome
Faciocutaneoskeletal syndrome
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: CYP19A1
disease_id: ORPHA:91
disease_name: Aromatase deficiency
Congenital estrogen deficiency
gene_symbol: SPINK5
disease_id: ORPHA:634
disease_name: Netherton syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
NS