SGYMR
MCID: SKL011
MIFTS: 19

Skeletal Defects, Genital Hypoplasia, and Mental Retardation (SGYMR)

Categories: Genetic 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 72 36 29 13 6 39
Sgymr 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
skeletal defects, genital hypoplasia, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

KEGG : 36 This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia.

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

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 612447

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

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 delayed skeletal maturation 31 HP:0002750
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 strabismus 31 HP:0000486
6 cryptorchidism 31 HP:0000028
7 narrow mouth 31 HP:0000160
8 micropenis 31 HP:0000054
9 thin vermilion border 31 HP:0000233
10 supernumerary ribs 31 HP:0005815
11 hypoplasia of the ulna 31 HP:0003022
12 aplasia/hypoplasia of the radius 31 HP:0006501
13 absent thumb 31 HP:0009777
14 fibular hypoplasia 31 HP:0003038
15 short tibia 31 HP:0005736
16 short femur 31 HP:0003097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
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 (Updated 05-Apr-2021)

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:

40
Bone

Publications for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

Articles related to Skeletal Defects, Genital Hypoplasia, and Mental Retardation:

# Title Authors PMID Year
1
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. 57 6
18611983 2008
2
Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation. 6 57
11891687 2002

Variations for Skeletal Defects, Genital Hypoplasia, and Mental Retardation

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZBTB16 NM_006006.6(ZBTB16):c.1849A>G (p.Met617Val) SNV Pathogenic 13376 rs121434606 GRCh37: 11:114121104-114121104
GRCh38: 11:114250382-114250382

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

72
# Symbol AA change Variation ID SNP ID
1 ZBTB16 p.Met617Val VAR_054912 rs121434606

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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