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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hypohidrosis (D007007)
Parent Node: Hypotrichosis (D007039)
Parent Node: Ichthyosis (D007057)
..Starting node ..Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554)
Child Nodes:
........ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
Sister Nodes:
..Acquired ichthyosis (C538175)
..Camptodactyly-ichthyosis syndrome (C537976)
..Cataract and congenital ichthyosis (C538281)
..Deal Barratt Dillon syndrome (C538206)
..Dykes Markes Harper syndrome (C535727)
..Erythrokeratoderma, Reticular (C563781)
..Grover's disease (C537306)
..HID Syndrome (C566528)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis cheek eyebrow syndrome (C536084)
..Ichthyosis Exfoliativa (C563978)
..Ichthyosis follicularis atrichia photophobia syndrome (C536085)
..Ichthyosis hystrix gravior (C536087)
..Ichthyosis hystrix, Curth Macklin type (C536088)
..Ichthyosis prematurity syndrome (C536271)
..Ichthyosis tapered fingers midline groove up (C536272)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis with hypotrichosis, autosomal recessive (C536273) 1
..ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
..Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related (C567370)
..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
..Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) 1
..Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive (C565749)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Ichthyosis, X-Linked (D016114) 2
..Ichthyosis, X-Linked, Complicated (C567443)
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Jagell Holmgren Hofer syndrome (C537364)
..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Koone Rizzo Elias syndrome (C537023)
..Neu Laxova syndrome (C536405)
..Osteosclerosis with Ichthyosis and Fractures (C563483)
..Rud Syndrome (C535878)
..Ruzicka Goerz Anton syndrome (C537192)
..Sammartino De Crecchio Syndrome (C537229)
..Sjogren-Larsson Syndrome (D016111) 1
..Stormorken Syndrome (C566108)
..Trichodysplasia-Xeroderma (C566032)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5679

Name:

Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis

Definition:

Alternative IDs:

ParentIDs:

MESH:D007007|MESH:D007039|MESH:D007057

TreeNumbers:

C16.131.831.512/C566554 |C16.614.492/C566554 |C17.800.329.937/C566554 |C17.800.428.333/C566554 |C17.800.804.512/C566554 |C17.800.946.370/C566554

Synonyms:

Slim Mappings:

Congenital abnormality|Infant-newborn disease|Skin disease

Reference:

MedGen: C566554
MeSH: C566554
OMIM: 602400;

Genes: ST14;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000498	Blepharitis
3	HP:0002299	Brittle hair	HP:0040284
4	HP:0007431	Congenital ichthyosiform erythroderma
5	HP:0007957	Corneal opacity	HP:0040284
6	HP:0002212	Curly hair
7	HP:0000966	Hypohidrosis	HP:0040283
8	HP:0001006	obsolete Hypotrichosis
9	HP:0000613	Photophobia	HP:0040284
10	HP:0003777	Pili torti
11	HP:0000535	Sparse and thin eyebrow
12	HP:0008070	Sparse hair	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_021978.3(ST14):c.3G>A (p.Met1Ile)	6768	ST14	Pathogenic	137852932	RCV000004254;	N	MedGen:C1865595,OMIM:602400	11	130029877	130029877	NM_021978.3:c.3G>A	NP_068813.1:p.Met1Ile	NC_000011.9:g.130029877G>A	OMIM Allelic Variant:606797.0002	C1865595 602400 Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
NM_021978.3(ST14):c.2034delG (p.Leu678Phefs)	6768	ST14	Pathogenic	587777263	RCV000114360;	N	MedGen:C1865595,OMIM:602400	11	130078344	130078344	NM_021978.3:c.2034delG	NP_068813.1:p.Leu678Phefs		OMIM Allelic Variant:606797.0004	C1865595 602400 Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
NM_021978.3(ST14):c.2269+1G>A	6768	ST14	Pathogenic	587777262	RCV000114359;	N	MedGen:C1865595,OMIM:602400	11	130078580	130078580	NM_021978.3:c.2269+1G>A		11:g.130078580G>A	OMIM Allelic Variant:606797.0003	C1865595 602400 Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
NM_021978.3(ST14):c.2479G>A (p.Gly827Arg)	6768	ST14	Pathogenic	137852931	RCV000004253;	N	MedGen:C1865595,OMIM:602400	11	130079629	130079629	NM_021978.3:c.2479G>A	NP_068813.1:p.Gly827Arg	NC_000011.9:g.130079629G>A	OMIM Allelic Variant:606797.0001	C1865595 602400 Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis