MCID: SKL011
MIFTS: 16

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

About this section

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

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation 50 68 25 12
 
Sgymr 68

Characteristics:

HPO:

62
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 612447
MedGen35 C2676231

Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

About this section
UniProtKB/Swiss-Prot:68 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:50 612447

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

About this section

Symptoms for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

About this section

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

About this section

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

About this section

Genetic tests related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

id Genetic test Affiliating Genes
1 Skeletal Defects, Genital Hypoplasia, and Mental Retardation25

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

About this section

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

34
Bone

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

About this section

Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

About this section

Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

About this section

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

68
id Symbol AA change Variation ID SNP ID
1ZBTB16p.Met617ValVAR_054912rs121434606

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

About this section
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

About this section

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

About this section

Sources for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet