Aliases & Classifications for Nsdhl-Related Disorders

MalaCards integrated aliases for Nsdhl-Related Disorders:

Name: Nsdhl-Related Disorders 24 29 6

Characteristics:

GeneReviews:

24
Penetrance Incomplete penetrance has not been reported for child syndrome; therefore, the penetrance is probably very high. of note, expressivity is highly variable; in affected females, child syndrome may manifest as minor skin changes only....

Summaries for Nsdhl-Related Disorders

MalaCards based summary : Nsdhl-Related Disorders is related to attention deficit-hyperactivity disorder and strabismus, and has symptoms including difficulty sleeping An important gene associated with Nsdhl-Related Disorders is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like). Affiliated tissues include skin, brain and heart.

GeneReviews: NBK51754

Related Diseases for Nsdhl-Related Disorders

Diseases related to Nsdhl-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.1
2 strabismus 10.1
3 3-methylglutaconic aciduria, type iii 10.1
4 ck syndrome 10.1
5 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
6 scoliosis 10.1
7 microcephaly 10.1
8 mechanical strabismus 10.1

Graphical network of the top 20 diseases related to Nsdhl-Related Disorders:



Diseases related to Nsdhl-Related Disorders

Symptoms & Phenotypes for Nsdhl-Related Disorders

UMLS symptoms related to Nsdhl-Related Disorders:


difficulty sleeping

Drugs & Therapeutics for Nsdhl-Related Disorders

Search Clinical Trials , NIH Clinical Center for Nsdhl-Related Disorders

Genetic Tests for Nsdhl-Related Disorders

Genetic tests related to Nsdhl-Related Disorders:

# Genetic test Affiliating Genes
1 Nsdhl-Related Disorders 29 NSDHL

Anatomical Context for Nsdhl-Related Disorders

MalaCards organs/tissues related to Nsdhl-Related Disorders:

40
Skin, Brain, Heart, Small Intestine

Publications for Nsdhl-Related Disorders

Articles related to Nsdhl-Related Disorders:

(show all 46)
# Title Authors PMID Year
1
CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol. 24
29341259 2018
2
Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy. 24
29687057 2018
3
CHILD syndrome: A modified pathogenesis-targeted therapeutic approach. 24
29392821 2018
4
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation. 24
26459993 2015
5
CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report. 24
25845514 2015
6
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. 24
25900314 2015
7
CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole. 24
24696032 2015
8
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. 24
24133203 2014
9
Small intestinal mucosal xanthoma in a patient with CHILD syndrome. 24
23969275 2013
10
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. 24
23042573 2012
11
Topical treatment of CHILD nevus and Sjögren-Larsson Syndrome with combined lovastatin and cholesterol. 24
21983059 2011
12
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. 24
21753784 2011
13
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. 24
21129721 2010
14
CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. 24
20804683 2010
15
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder. 24
19906044 2010
16
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. 24
20452996 2010
17
Donor dominance cures CHILD nevus. 24
20389027 2010
18
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 24
19842190 2009
19
Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas. 24
19192012 2009
20
Execution of nonsense-mediated mRNA decay: what defines a substrate? 24
19359157 2009
21
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 24
19377476 2009
22
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing. 24
18764845 2008
23
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome. 24
18825599 2008
24
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. 24
16549711 2006
25
Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts. 24
15805545 2005
26
Mutational spectrum of NSDHL in CHILD syndrome. 24
15689440 2005
27
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. 24
16088165 2005
28
CHILD syndrome avant la lettre. 24
14726863 2004
29
NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. 24
14506130 2003
30
Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. 24
12966526 2003
31
Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. 24
14567972 2003
32
Protein-protein interactions among C-4 demethylation enzymes involved in yeast sterol biosynthesis. 24
12119386 2002
33
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. 24
11907515 2002
34
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. 24
10710233 2000
35
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 24
10710235 2000
36
Characterization of the Saccharomyces cerevisiae ERG26 gene encoding the C-3 sterol dehydrogenase (C-4 decarboxylase) involved in sterol biosynthesis. 24
9811880 1998
37
CHILD syndrome in a boy. 24
8882402 1996
38
CHILD syndrome: analysis of abnormal keratinization and ultrastructure. 24
7544893 1995
39
The CHILD nevus: a distinct skin disorder. 24
8534939 1995
40
The CHILD syndrome. Histologic and ultrastructural studies. 24
3827283 1987
41
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. 24
7408908 1980
42
Q--congenital hemidysplasia with ichthyosis. 24
4620143 1974
43
Linear ichthyosis associated with skeletal abnormalities. 24
4322292 1970
44
Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome. 24
5696317 1968
45
[Not Available]. 24
18865122 1948
46
NSDHL-Related Disorders 61
21290788 2011

Variations for Nsdhl-Related Disorders

ClinVar genetic disease variations for Nsdhl-Related Disorders:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSDHL NM_015922.3(NSDHL):c.1098dup (p.Arg367fs)duplication Pathogenic 21266 rs121909834 X:152037633-152037634 X:152869089-152869090
2 NSDHL NM_015922.3(NSDHL):c.693_695GAA[1] (p.Lys232del)short repeat Pathogenic 21268 rs121909833 X:152036121-152036123 X:152867577-152867579

Expression for Nsdhl-Related Disorders

Search GEO for disease gene expression data for Nsdhl-Related Disorders.

Pathways for Nsdhl-Related Disorders

GO Terms for Nsdhl-Related Disorders

Sources for Nsdhl-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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