Phenotype: Hypopigmented skin patches (HP:0001053)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: KITLG
disease_id: OMIM:145250
disease_name: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE
gene_symbol: KITLG
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: FGFR3
disease_id: ORPHA:53271
disease_name: Muenke syndrome
gene_symbol: SOX5
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ALK
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ZEB2
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: NRAS
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: BRAF
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: RAF1
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: CCR6
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: KIAA0319L
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: CCN2
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: IRF5
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: CAV1
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: HLA-DRB1
disease_id: ORPHA:220402
disease_name: Limited cutaneous systemic sclerosis
Limited cutaneous systemic scleroderma
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: TMC6
disease_id: ORPHA:302
disease_name: Inherited epidermodysplasia verruciformis
Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
gene_symbol: IL7
disease_id: ORPHA:302
disease_name: Inherited epidermodysplasia verruciformis
Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
gene_symbol: TMC8
disease_id: ORPHA:302
disease_name: Inherited epidermodysplasia verruciformis
Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
gene_symbol: CIB1
disease_id: ORPHA:302
disease_name: Inherited epidermodysplasia verruciformis
Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: SOX10
disease_id: OMIM:613266
disease_name: WAARDENBURG SYNDROME, TYPE 4C
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: SOX10
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SOX10
disease_id: ORPHA:163746
disease_name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Neurologic Waardenburg-Shah syndrome
PCWH
WS4 plus
gene_symbol: SOX10
disease_id: OMIM:611584
disease_name: WAARDENBURG SYNDROME, TYPE 2E
gene_symbol: EDN3
disease_id: OMIM:613265
disease_name: WAARDENBURG SYNDROME, TYPE 4B
gene_symbol: SMO
disease_id: ORPHA:1553
disease_name: Curry-Jones syndrome
Corpus callosum agenesis-polysyndactyly syndrome
gene_symbol: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: EDNRB
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: SNAI2
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: SNAI2
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: KIT
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: BTK
disease_id: ORPHA:47
disease_name: X-linked agammaglobulinemia
BTK-deficiency
Bruton type agammaglobulinemia
gene_symbol: MITF
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: TYR
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: PAX3
disease_id: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: SLC6A19
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: CLTRN
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: FGFR2
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: ERF
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: NDUFB11
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: COX7B
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: HCCS
disease_id: ORPHA:2556
disease_name: Microphthalmia with linear skin defects syndrome
MCOPS7
MIDAS syndrome
MLS syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Syndromic microphthalmia type 7
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: TWIST2
disease_id: ORPHA:1807
disease_name: Focal facial dermal dysplasia type III
FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome
gene_symbol: ABCB6
disease_id: ORPHA:241
disease_name: Dyschromatosis universalis hereditaria
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TINF2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NHP2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: USB1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: WRAP53
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: RTEL1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NPM1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERC
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NOP10
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: PARN
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERT
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: DKC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TYMS
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: MTOR
disease_id: ORPHA:457485
disease_name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
MINDS syndrome
Smith-Kingsmore syndrome
gene_symbol: ANTXR1
disease_id: ORPHA:2067
disease_name: GAPO syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: CTSC
disease_id: ORPHA:678
disease_name: Papillon-Lefèvre syndrome
Keratosis palmoplantar-periodontopathy syndrome
PLS
gene_symbol: EBP
disease_id: ORPHA:401973
disease_name: MEND syndrome
Male EBP disorder with neurological defects
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: FERMT1
disease_id: OMIM:173650
disease_name: KINDLER SYNDROME
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
gene_symbol: KRT5
disease_id: ORPHA:79397
disease_name: Epidermolysis bullosa simplex with mottled pigmentation
EBS with mottled pigmentation
EBS-MP
gene_symbol: KRT5
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: KRT14
disease_id: ORPHA:79397
disease_name: Epidermolysis bullosa simplex with mottled pigmentation
EBS with mottled pigmentation
EBS-MP
gene_symbol: KRT14
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION