MCID: SKL011
MIFTS: 18

Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Mental diseases

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

MalaCards integrated aliases for Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

Name: Skeletal Defects, Genital Hypoplasia, and Mental Retardation 57 75 37 29 13 6 40
Sgymr 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

UniProtKB/Swiss-Prot : 75 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. 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, and related phenotypes are intellectual disability and delayed skeletal maturation

Description from OMIM: 612447

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

Symptoms & Phenotypes for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Growth Height:
short stature

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Mouth:
small mouth
thin lips

Neurologic Central Nervous System:
mental retardation

Head And Neck Face:
dysmorphic face

Skeletal Hands:
absent thumbs, bilaterally

Skeletal Skull:
microcephaly

Head And Neck Eyes:
strabismus

Genitourinary External Genitalia Male:
micropenis

Skeletal Limbs:
delayed bone age
ulnar hypoplasia
radial aplasia/hypoplasia
shortened humeri
shortened femurs
more
Chest Ribs Sternum Clavicles And Scapulae:
13 pairs of ribs
hypoplastic right clavicle
hypoplastic right scapula

Head And Neck Ears:
protruding right ear

Skeletal Feet:
bifid hallux, unilateral


Clinical features from OMIM:

612447

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 delayed skeletal maturation 32 HP:0002750
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 strabismus 32 HP:0000486
6 cryptorchidism 32 HP:0000028
7 narrow mouth 32 HP:0000160
8 thin vermilion border 32 HP:0000233
9 supernumerary ribs 32 HP:0005815
10 hypoplasia of the ulna 32 HP:0003022
11 micropenis 32 HP:0000054
12 aplasia/hypoplasia of the radius 32 HP:0006501
13 fibular hypoplasia 32 HP:0003038
14 short tibia 32 HP:0005736
15 short femur 32 HP:0003097
16 absent thumb 32 HP:0009777

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

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

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

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

# Genetic test Affiliating Genes
1 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 29 ZBTB16

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

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

41
Bone

Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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

75
# Symbol AA change Variation ID SNP ID
1 ZBTB16 p.Met617Val VAR_054912 rs121434606

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB16 NM_006006.5(ZBTB16): c.1849A> G (p.Met617Val) single nucleotide variant Pathogenic rs121434606 GRCh37 Chromosome 11, 114121104: 114121104
2 ZBTB16 NM_006006.5(ZBTB16): c.1849A> G (p.Met617Val) single nucleotide variant Pathogenic rs121434606 GRCh38 Chromosome 11, 114250382: 114250382

Expression for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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

Pathways for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

GO Terms for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Sources for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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