SSMGA
MCID: SHR123
MIFTS: 13

Short Stature and Microcephaly with Genital Anomalies (SSMGA)

Categories: Genetic diseases

Aliases & Classifications for Short Stature and Microcephaly with Genital Anomalies

MalaCards integrated aliases for Short Stature and Microcephaly with Genital Anomalies:

Name: Short Stature and Microcephaly with Genital Anomalies 56 6
Ssmga 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 turkish siblings (last curated december 2019)


Classifications:



External Ids:

OMIM 56 618702

Summaries for Short Stature and Microcephaly with Genital Anomalies

OMIM : 56 Short stature and microcephaly with genital anomalies (SSMGA) is characterized by severe growth failure, with extreme short stature, microcephaly, and delayed and dissociated bone age. Global psychomotor developmental delay may be present, although the brain appears structurally normal. Pubertal delay and genital anomalies have been observed (Hung et al., 2017). (618702)

MalaCards based summary : Short Stature and Microcephaly with Genital Anomalies, is also known as ssmga. An important gene associated with Short Stature and Microcephaly with Genital Anomalies is CENPT (Centromere Protein T). Affiliated tissues include bone, brain and testes.

Related Diseases for Short Stature and Microcephaly with Genital Anomalies

Symptoms & Phenotypes for Short Stature and Microcephaly with Genital Anomalies

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Genitourinary Internal Genitalia Female:
primary amenorrhea

Head And Neck Face:
narrow face

Head And Neck Mouth:
small mouth

Growth Weight:
low weight

Genitourinary Internal Genitalia Male:
small testes
undescended testicles

Skin Nails Hair Skin:
abnormal palmar creases

Chest Breasts:
absent thelarche

Head And Neck Head:
microcephaly, severe (-4 sd to -6 sd)

Neurologic Central Nervous System:
global psychomotor developmental delay

Endocrine Features:
delayed puberty
normal gonadotropic hormone levels

Genitourinary External Genitalia Male:
micropenis

Head And Neck Eyes:
downslanting palpebral fissures
hyperopia, mild to severe

Skin Nails Hair Nails:
hypoplastic fingernails

Skeletal Limbs:
genua valga
leg-length discrepancy

Skeletal Skull:
microcephaly, severe
dissociated bone age delay

Skeletal Spine:
scoliosis, mild
box-shaped lumbar vertebrae

Growth Height:
short stature, severe (-7 sd to -9 sd)

Head And Neck Nose:
beak-like nose

Clinical features from OMIM:

618702

Drugs & Therapeutics for Short Stature and Microcephaly with Genital Anomalies

Search Clinical Trials , NIH Clinical Center for Short Stature and Microcephaly with Genital Anomalies

Genetic Tests for Short Stature and Microcephaly with Genital Anomalies

Anatomical Context for Short Stature and Microcephaly with Genital Anomalies

MalaCards organs/tissues related to Short Stature and Microcephaly with Genital Anomalies:

40
Bone, Brain, Testes

Publications for Short Stature and Microcephaly with Genital Anomalies

Articles related to Short Stature and Microcephaly with Genital Anomalies:

# Title Authors PMID Year
1
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. 56 6
29228025 2017

Variations for Short Stature and Microcephaly with Genital Anomalies

ClinVar genetic disease variations for Short Stature and Microcephaly with Genital Anomalies:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CENPT NM_025082.4(CENPT):c.1186+1G>ASNV Pathogenic 800555 16:67863667-67863667 16:67829764-67829764

Expression for Short Stature and Microcephaly with Genital Anomalies

Search GEO for disease gene expression data for Short Stature and Microcephaly with Genital Anomalies.

Pathways for Short Stature and Microcephaly with Genital Anomalies

GO Terms for Short Stature and Microcephaly with Genital Anomalies

Sources for Short Stature and Microcephaly with Genital Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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