MCID: SKL011
MIFTS: 15

Skeletal Defects, Genital Hypoplasia, and Mental Retardation malady

Categories: Genetic diseases (common), Neuronal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Aliases & Descriptions for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation 49 11 67 24
 
Sgymr 67

Characteristics:

HPO:

61
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 612447
MedGen34 C2676231

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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UniProtKB/Swiss-Prot:67 Skeletal defects, genital hypoplasia, and mental retardation: A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia.

MalaCards based summary: Skeletal Defects, Genital Hypoplasia, and Mental Retardation, is also known as sgymr, and has symptoms including cryptorchidism, micropenis and narrow mouth. An important gene associated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation is ZBTB16 (Zinc Finger And BTB Domain Containing 16). Affiliated tissues include bone.

Description from OMIM:49 612447

Related Diseases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Symptoms for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Symptoms by clinical synopsis from OMIM:

612447

Clinical features from OMIM:

612447

HPO human phenotypes related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

(show all 16)
id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 micropenis HP:0000054
3 narrow mouth HP:0000160
4 thin vermilion border HP:0000233
5 microcephaly HP:0000252
6 strabismus HP:0000486
7 intellectual disability HP:0001249
8 delayed skeletal maturation HP:0002750
9 hypoplasia of the ulna HP:0003022
10 fibular hypoplasia HP:0003038
11 short femur HP:0003097
12 short stature HP:0004322
13 short tibia HP:0005736
14 supernumerary ribs HP:0005815
15 aplasia/hypoplasia of the radius HP:0006501
16 absent thumb HP:0009777

Drugs & Therapeutics for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Genetic Tests for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Anatomical Context for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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MalaCards organs/tissues related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

33
Bone

Animal Models for Skeletal Defects, Genital Hypoplasia, and Mental Retardation or affiliated genes

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Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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UniProtKB/Swiss-Prot genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

67
id Symbol AA change Variation ID SNP ID
1ZBTB16p.Met617ValVAR_054912

Clinvar genetic disease variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZBTB16NM_006006.4(ZBTB16): c.1849A> G (p.Met617Val)single nucleotide variantPathogenicrs121434606GRCh37Chr 11, 114121104: 114121104

Expression for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Search GEO for disease gene expression data for Skeletal Defects, Genital Hypoplasia, and Mental Retardation.

Pathways for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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GO Terms for genes affiliated with Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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Sources for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet