HOD
MCID: HYP846
MIFTS: 21

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 56 73 6
Hod 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 unrelated children, ages 22 months and 14 months (last curated august 2019)


HPO:

31
hypopigmentation, organomegaly, and delayed myelination and development:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 56 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 schizophrenia. An important gene associated with Hypopigmentation, Organomegaly, and Delayed Myelination and Development is CLCN7 (Chloride Voltage-Gated Channel 7). Affiliated tissues include kidney, spleen and brain, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 73 Hypopigmentation, organomegaly, and delayed myelination and development: An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles.

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 schizophrenia 10.2
3 triiodothyronine receptor auxiliary protein 10.2
4 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.2
5 methylmalonic aciduria and homocystinuria, cbld type 10.2
6 methylmalonic aciduria and homocystinuria, cblj type 10.2
7 eye disease 10.2
8 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...

Human phenotypes related to Hypopigmentation, Organomegaly, and Delayed Myelination and Development:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 short stature 31 HP:0004322
4 intrauterine growth retardation 31 HP:0001511
5 delayed gross motor development 31 HP:0002194
6 polyhydramnios 31 HP:0001561
7 generalized hypotonia 31 HP:0001290
8 reduced visual acuity 31 HP:0007663
9 premature birth 31 HP:0001622
10 cerebellar atrophy 31 HP:0001272
11 hypopigmentation of the skin 31 HP:0001010
12 delayed fine motor development 31 HP:0010862

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Neurologic Central Nervous System:
delayed gross motor development
cerebellar atrophy
delayed fine motor development
thin posterior corpus callosum
generalized hypotonia (patient 1)
more
Prenatal Manifestations Delivery:
premature birth

Skin Nails Hair Skin:
hypopigmentation

Genitourinary Kidneys:
enlarged kidneys
poor corticomedullary differentiation
abnormal cytoplasmic inclusion bodies in renal interstitial macrophages

Head And Neck Eyes:
normally pigmented irides
reduced visual acuity (patient 1)
rod-cone dystrophy seen on electroretinography (patient 1)

Skin Nails Hair Skin Electron Microscopy:
abnormal cytoplasmic inclusion bodies in interstitial macrophages
immature melanosomes
disorganized melanosomes

Laboratory Abnormalities:
enlarged lysosomal storage vacuoles in liver, spleen, and kidney

Abdomen Liver:
hepatomegaly
abnormal cytoplasmic inclusion bodies in hepatic macrophages

Growth Other:
intrauterine growth retardation
postnatal delayed growth

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Limbs:
short long bones
diffuse hypermobility of upper extremities (patient 1)

Skin Nails Hair Hair:
hypopigmentation

Head And Neck Ears:
profound hearing loss, unilateral (patient 1)

Abdomen Gastrointestinal:
abnormal cytoplasmic inclusion bodies in duodenal histiocytes

Muscle Soft Tissue:
decreased muscle mass in lower extremities (patient 1)

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:

40
Kidney, Spleen, Brain, Liver, Skin, Bone

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. 6 56
31155284 2019

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

ClinVar genetic disease variations for Hypopigmentation, Organomegaly, and Delayed Myelination and Development:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLCN7 NM_001287.6(CLCN7):c.2144A>G (p.Tyr715Cys)SNV Pathogenic 372326 rs1057517718 16:1497499-1497499 16:1447498-1447498

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 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
Content
Loading form....