SSMGA
MCID: SHR123
MIFTS: 19

Short Stature and Microcephaly with Genital Anomalies (SSMGA)

Categories: Bone diseases, Genetic diseases, Mental diseases, Reproductive 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 57 73 6 17
Ssmga 57 73

Characteristics:

OMIM®:

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

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


HPO:

31
short stature and microcephaly with genital anomalies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature and Microcephaly with Genital Anomalies

OMIM® : 57 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) (Updated 05-Mar-2021)

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 and testes, and related phenotypes are failure to thrive and scoliosis

UniProtKB/Swiss-Prot : 73 Short stature and microcephaly with genital anomalies: An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies.

Related Diseases for Short Stature and Microcephaly with Genital Anomalies

Symptoms & Phenotypes for Short Stature and Microcephaly with Genital Anomalies

Human phenotypes related to Short Stature and Microcephaly with Genital Anomalies:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 scoliosis 31 very rare (1%) HP:0002650
3 microcephaly 31 very rare (1%) HP:0000252
4 gastroesophageal reflux 31 very rare (1%) HP:0002020
5 genu valgum 31 very rare (1%) HP:0002857
6 narrow face 31 very rare (1%) HP:0000275
7 downslanted palpebral fissures 31 very rare (1%) HP:0000494
8 narrow mouth 31 very rare (1%) HP:0000160
9 micropenis 31 very rare (1%) HP:0000054
10 hypoplastic fingernail 31 very rare (1%) HP:0001804
11 feeding difficulties 31 very rare (1%) HP:0011968
12 severe short stature 31 very rare (1%) HP:0003510
13 large beaked nose 31 very rare (1%) HP:0003683
14 hypermetropia 31 very rare (1%) HP:0000540
15 phimosis 31 very rare (1%) HP:0001741
16 dysharmonic delayed bone age 31 very rare (1%) HP:0005832
17 delayed thelarche 31 very rare (1%) HP:0025515
18 global developmental delay 31 HP:0001263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Genitourinary Internal Genitalia Female:
primary amenorrhea

Genitourinary External Genitalia Male:
micropenis

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

Head And Neck Face:
narrow face

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 (Updated 05-Mar-2021)

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, 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. 6 57
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>A SNV Pathogenic 800555 rs1364608764 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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