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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

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Disease Browser
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
Child Nodes:
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4019

Name:

Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like

Definition:

Alternative IDs:

OMIM:607936

ParentIDs:

MESH:D012873

TreeNumbers:

C16.320.850/C564309 |C17.800.827/C564309

Synonyms:

AREI |Exfoliative Ichthyosis, Autosomal Recessive, IBS-Like

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: C564309
MeSH: C564309
OMIM: 607936;

Genes: CSTA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0025092	Epidermal acanthosis	HP:0040283
3	HP:0008064	Ichthyosis
4	HP:0100725	Lichenification
5	HP:0008404	Nail dystrophy	HP:0040283
6	HP:0000982	Palmoplantar keratoderma
7	HP:0040189	Scaling skin

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_005213.3(CSTA):c.64A>T (p.Lys22Ter)	1475	CSTA	Pathogenic	747711488	RCV000190494;	N	MedGen:C1842797,OMIM:607936,ORPHA:289586	3	122044203	122044203	NM_005213.3:c.64A>T	NP_005204.1:p.Lys22Ter	NC_000003.11:g.122044203A>T	OMIM Allelic Variant:184600.0003	C1842797 607936 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
NM_005213.3(CSTA):c.67-2A>T	1475	CSTA	Pathogenic	398122804	RCV000022773;	N	MedGen:C1842797,OMIM:607936,ORPHA:289586	3	122056392	122056392	NM_005213.3:c.67-2A>T		NC_000003.11:g.122056392A>T	OMIM Allelic Variant:184600.0001	C1842797 607936 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
NM_005213.3(CSTA):c.172C>T (p.Arg58Ter)	1475	CSTA	Pathogenic	149474339	RCV000190495;	N	MedGen:C1842797,OMIM:607936,ORPHA:289586	3	122060289	122060289	NM_005213.3:c.172C>T	NP_005204.1:p.Arg58Ter	NC_000003.11:g.122060289C>T	OMIM Allelic Variant:184600.0004	C1842797 607936 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
NM_005213.3(CSTA):c.256C>T (p.Gln86Ter)	1475	CSTA	Pathogenic	387906689	RCV000022774;	N	MedGen:C1842797,OMIM:607936,ORPHA:289586	3	122060373	122060373	NM_005213.3:c.256C>T	NP_005204.1:p.Gln86Ter	NC_000003.11:g.122060373C>T	OMIM Allelic Variant:184600.0002	C1842797 607936 Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like