HOD
MCID: HYP846
MIFTS: 12

Hypopigmentation, Organomegaly, and Delayed Myelination and Development (HOD)

Categories: Genetic diseases

Aliases & Classifications for Hypopigmentation, Organomegaly, and Delayed Myelination and...

MalaCards integrated aliases for Hypopigmentation, Organomegaly, and Delayed Myelination and Development:

Name: Hypopigmentation, Organomegaly, and Delayed Myelination and Development 57
Hod 57

Classifications:



External Ids:

OMIM 57 618541

Summaries for Hypopigmentation, Organomegaly, and Delayed Myelination and...

OMIM : 57 Hypopigmentation, organomegaly, and delayed myelination and development (HOD) is characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder (Nicoli et al., 2019). (618541)

MalaCards based summary : Hypopigmentation, Organomegaly, and Delayed Myelination and Development, also known as hod, is related to hypertrophic olivary degeneration and homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity. An important gene associated with Hypopigmentation, Organomegaly, and Delayed Myelination and Development is CLCN7 (Chloride Voltage-Gated Channel 7). Affiliated tissues include brain, liver and skin.

Related Diseases for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Diseases related to Hypopigmentation, Organomegaly, and Delayed Myelination and Development via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrophic olivary degeneration 12.1
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.3
3 methylmalonic aciduria and homocystinuria, cbld type 10.3
4 methylmalonic aciduria and homocystinuria, cblj type 10.3
5 eye disease 10.3
6 methylmalonic acidemia with homocystinuria type cblj 10.3
7 schizophrenia 10.2
8 triiodothyronine receptor auxiliary protein 10.2
9 sickle cell disease 10.2

Graphical network of the top 20 diseases related to Hypopigmentation, Organomegaly, and Delayed Myelination and Development:



Diseases related to Hypopigmentation, Organomegaly, and Delayed Myelination and Development

Symptoms & Phenotypes for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Clinical features from OMIM:

618541

Drugs & Therapeutics for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Search Clinical Trials , NIH Clinical Center for Hypopigmentation, Organomegaly, and Delayed Myelination and Development

Genetic Tests for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Anatomical Context for Hypopigmentation, Organomegaly, and Delayed Myelination and...

MalaCards organs/tissues related to Hypopigmentation, Organomegaly, and Delayed Myelination and Development:

41
Brain, Liver, Skin, Kidney, Spleen

Publications for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Articles related to Hypopigmentation, Organomegaly, and Delayed Myelination and Development:

# Title Authors PMID Year
1
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. 8
31155284 2019

Variations for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Expression for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Search GEO for disease gene expression data for Hypopigmentation, Organomegaly, and Delayed Myelination and Development.

Pathways for Hypopigmentation, Organomegaly, and Delayed Myelination and...

GO Terms for Hypopigmentation, Organomegaly, and Delayed Myelination and...

Sources for Hypopigmentation, Organomegaly, and Delayed Myelination and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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