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Hello! Guest! Please Login or Register! Clinician Mode

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: Ichthyosis (D007057)
Parent Node: Lipidoses (D008064)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Sjogren-Larsson Syndrome (D016111)
Child Nodes:
........Sjogren-Larsson-like syndrome (C536668)
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:

10264

Name:

Sjogren-Larsson Syndrome

Definition:

An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.

Alternative IDs:

OMIM:270200

ParentIDs:

MESH:D007057|MESH:D008064|MESH:D012873

TreeNumbers:

C16.131.831.512.723 |C16.320.565.398.641.723 |C16.320.850.820 |C16.614.492.723 |C17.800.428.333.723 |C17.800.804.512.723 |C17.800.827.820 |C18.452.584.687.723 |C18.452.648.398.641.723

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease

Reference:

MedGen: D016111
MeSH: D016111
OMIM: 270200;

Genes: ALDH3A2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007305	CNS demyelination
3	HP:0006297	Enamel hypoplasia
4	HP:0008064	Ichthyosis
5	HP:0001249	Intellectual disability
6	HP:0000608	Macular degeneration
7	HP:0007727	Opacification of the corneal epithelium
8	HP:0000613	Photophobia
9	HP:0001250	Seizure
10	HP:0004322	Short stature
11	HP:0001257	Spasticity
12	HP:0002942	Thoracic kyphosis

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_000382.2(ALDH3A2):c.28C>T (p.Gln10Ter)	224	ALDH3A2	Likely pathogenic	72547554	RCV000169182;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19552312	19552312	NM_000382.2:c.28C>T	NP_000373.1:p.Gln10Ter	NC_000017.10:g.19552312C>T	-	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.471+1delG	224	ALDH3A2	Likely pathogenic	786204741	RCV000169590;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19555946	19555946	NM_000382.2:c.471+1delG		NC_000017.10:g.19555946delG	-	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.521delT (p.Leu174Argfs)	224	ALDH3A2	Pathogenic	387906254	RCV000001703;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19559728	19559728	NM_000382.2:c.521delT	NP_000373.1:p.Leu174Argfs	NC_000017.10:g.19559728delT	OMIM Allelic Variant:609523.0001	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.551C>T (p.Thr184Met)	224	ALDH3A2	Likely pathogenic	72547562	RCV000169091;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19559758	19559758	NM_000382.2:c.551C>T	NP_000373.1:p.Thr184Met	NC_000017.10:g.19559758C>T	-	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.641G>A (p.Cys214Tyr)	224	ALDH3A2	Pathogenic	72547564	RCV000001706;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19559848	19559848	NM_000382.2:c.641G>A	NP_000373.1:p.Cys214Tyr	NC_000017.10:g.19559848G>A	OMIM Allelic Variant:609523.0004	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.798G>C (p.Lys266Asn)	224	ALDH3A2	Pathogenic	72547569	RCV000001710;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19561175	19561175	NM_000382.2:c.798G>C	NP_000373.1:p.Lys266Asn	NC_000017.10:g.19561175G>C	OMIM Allelic Variant:609523.0008	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.798+5G>A	224	ALDH3A2	Likely pathogenic	786204677	RCV000169484;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19561180	19561180	NM_000382.2:c.798+5G>A		NC_000017.10:g.19561180G>A	-	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.809delG (p.Gly270Glufs)	224	ALDH3A2	Pathogenic	387906255	RCV000001704;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19564450	19564450	NM_000382.2:c.809delG	NP_000373.1:p.Gly270Glufs	NC_000017.10:g.19564450delG	OMIM Allelic Variant:609523.0002	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.901_903delGCTinsCC (p.Ala301Profs)	224	ALDH3A2	Likely pathogenic	786204759	RCV000169619;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19564542	19564544	NM_000382.2:c.901_903delGCTinsCC	NP_000373.1:p.Ala301Profs	NC_000017.10:g.19564542_19564544delGCTinsCC	-	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.941_943delCCCinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrVa	224	ALDH3A2	Pathogenic	730880264	RCV000001705;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19566646	19566648	NM_000382.2:c.941_943delCCCinsGGGCTAAAAGTACTGTTGGGG	NP_000373.1:p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla	NC_000017.10:g.19566646_19566648delCCCinsGGGCTAAAAGTACTGTTGGGG	OMIM Allelic Variant:609523.0003	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.943C>T (p.Pro315Ser)	224	ALDH3A2	Pathogenic	72547571	RCV000001707;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19566648	19566648	NM_000382.2:c.943C>T	NP_000373.1:p.Pro315Ser	NC_000017.10:g.19566648C>T	OMIM Allelic Variant:609523.0005	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.1100delA (p.Asn367Thrfs)	224	ALDH3A2	Likely pathogenic	786204625	RCV000169395;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19566805	19566805	NM_000382.2:c.1100delA	NP_000373.1:p.Asn367Thrfs	NC_000017.10:g.19566805delA	-	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.1157A>G (p.Asn386Ser)	224	ALDH3A2	Pathogenic	72547575	RCV000001711;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19568310	19568310	NM_000382.2:c.1157A>G	NP_000373.1:p.Asn386Ser	NC_000017.10:g.19568310A>G	OMIM Allelic Variant:609523.0009	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.1297_1298delGA (p.Glu433Argfs)	224	ALDH3A2	Pathogenic	387906256	RCV000001708;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19575123	19575124	NM_000382.2:c.1297_1298delGA	NP_000373.1:p.Glu433Argfs	NC_000017.10:g.19575123_19575124delGA	OMIM Allelic Variant:609523.0006	C0037231 270200 Sjögren-Larsson syndrome
NM_000382.2(ALDH3A2):c.1307_1311dupACAAA (p.Leu438Thrfs)	224	ALDH3A2	Pathogenic	387906257	RCV000001709;	N	MedGen:C0037231,OMIM:270200,ORPHA:816,SNOMED CT:111303009	17	19575133	19575137	NM_000382.2:c.1307_1311dupACAAA	NP_000373.1:p.Leu438Thrfs	NC_000017.10:g.19575133_19575137dupACAAA	OMIM Allelic Variant:609523.0007	C0037231 270200 Sjögren-Larsson syndrome