IDDHH
MCID: INT401
MIFTS: 7

Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism (IDDHH)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder and Hypogonadotropic...

MalaCards integrated aliases for Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism:

Name: Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism 57
Iddhh 57

Classifications:



External Ids:

OMIM® 57 619326

Summaries for Intellectual Developmental Disorder and Hypogonadotropic...

OMIM® : 57 Intellectual developmental disorder and hypogonadotropic hypogonadism (IDDHH) is an autosomal recessive disorder characterized by obesity, impaired intellectual development, and hypogonadotropic hypogonadism. Variable features include central hypothyroidism, hypotonia, and developmental delay (Alsters et al., 2015; Durmaz et al., 2020). (619326) (Updated 20-May-2021)

MalaCards based summary : Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism, is also known as iddhh. An important gene associated with Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism is CPE (Carboxypeptidase E).

Related Diseases for Intellectual Developmental Disorder and Hypogonadotropic...

Symptoms & Phenotypes for Intellectual Developmental Disorder and Hypogonadotropic...

Clinical features from OMIM®:

619326 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder and Hypogonadotropic...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism

Genetic Tests for Intellectual Developmental Disorder and Hypogonadotropic...

Anatomical Context for Intellectual Developmental Disorder and Hypogonadotropic...

Publications for Intellectual Developmental Disorder and Hypogonadotropic...

Articles related to Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism:

# Title Authors PMID Year
1
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism 57
32936766 2021
2
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism. 57
26120850 2015

Variations for Intellectual Developmental Disorder and Hypogonadotropic...

Expression for Intellectual Developmental Disorder and Hypogonadotropic...

Search GEO for disease gene expression data for Intellectual Developmental Disorder and Hypogonadotropic Hypogonadism.

Pathways for Intellectual Developmental Disorder and Hypogonadotropic...

GO Terms for Intellectual Developmental Disorder and Hypogonadotropic...

Sources for Intellectual Developmental Disorder and Hypogonadotropic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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