MCID: MCR354
MIFTS: 21

Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microcephaly, Short Stature, and Polymicrogyria with or Without...

MalaCards integrated aliases for Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures:

Name: Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 57 75 29 6
Polymicrogyria with Seizures 57 75 13 40 73
Microcephaly, Short Stature, and Polymicrogyria with Seizures 57 6
Pmgys 57 75
Mssp 57 75
Microcephalic Primordial Dwarfism Due to Rttn Deficiency 59
Polymicrogyria with Seizures; Pmgys 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated september 2012)


HPO:

32
microcephaly, short stature, and polymicrogyria with or without seizures:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly, Short Stature, and Polymicrogyria with or Without...

UniProtKB/Swiss-Prot : 75 Microcephaly, short stature, and polymicrogyria with or without seizures: A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. MSSP patients have moderate to severe mental retardation, poor speech, dysarthria and seizures.

MalaCards based summary : Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures, is also known as polymicrogyria with seizures, and has symptoms including seizures An important gene associated with Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures is RTTN (Rotatin). Affiliated tissues include brain and kidney, and related phenotypes are microcephaly and seizures

Description from OMIM: 614833

Related Diseases for Microcephaly, Short Stature, and Polymicrogyria with or Without...

Symptoms & Phenotypes for Microcephaly, Short Stature, and Polymicrogyria with or Without...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dysarthria
abnormal eeg
mental retardation, moderate to severe
lack of speech or poor speech
more
Head And Neck Head:
microcephaly, mild (-2 sd)

Genitourinary Kidneys:
decreased kidney volume (1 patient)

Growth Height:
short stature, mild

Abdomen:
situs solitus


Clinical features from OMIM:

614833

Human phenotypes related to Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 seizures 32 HP:0001250
3 spasticity 32 occasional (7.5%) HP:0001257
4 dysarthria 32 HP:0001260
5 cerebellar atrophy 32 occasional (7.5%) HP:0001272
6 abnormality of the corpus callosum 32 HP:0001273
7 polymicrogyria 32 HP:0002126
8 intellectual disability, moderate 32 HP:0002342
9 eeg abnormality 32 HP:0002353
10 poor speech 32 HP:0002465
11 mild short stature 32 HP:0003502
12 abnormal pyramidal signs 32 occasional (7.5%) HP:0007256

UMLS symptoms related to Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures:


seizures

Drugs & Therapeutics for Microcephaly, Short Stature, and Polymicrogyria with or Without...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures

Genetic Tests for Microcephaly, Short Stature, and Polymicrogyria with or Without...

Genetic tests related to Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures:

# Genetic test Affiliating Genes
1 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 29 RTTN

Anatomical Context for Microcephaly, Short Stature, and Polymicrogyria with or Without...

MalaCards organs/tissues related to Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures:

41
Brain, Kidney

Publications for Microcephaly, Short Stature, and Polymicrogyria with or Without...

Variations for Microcephaly, Short Stature, and Polymicrogyria with or Without...

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures:

75
# Symbol AA change Variation ID SNP ID
1 RTTN p.Cys27Tyr VAR_069094 rs201884120
2 RTTN p.Leu932Phe VAR_069095 rs318240757

ClinVar genetic disease variations for Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RTTN NM_173630.3(RTTN): c.2796A> T (p.Leu932Phe) single nucleotide variant Pathogenic rs318240757 GRCh37 Chromosome 18, 67802509: 67802509
2 RTTN NM_173630.3(RTTN): c.2796A> T (p.Leu932Phe) single nucleotide variant Pathogenic rs318240757 GRCh38 Chromosome 18, 70135273: 70135273
3 RTTN NM_173630.3(RTTN): c.3380dupA (p.Asn1127Lysfs) duplication Likely pathogenic rs797044691 GRCh37 Chromosome 18, 67794741: 67794741
4 RTTN NM_173630.3(RTTN): c.3380dupA (p.Asn1127Lysfs) duplication Likely pathogenic rs797044691 GRCh38 Chromosome 18, 70127505: 70127505
5 RTTN NM_173630.3(RTTN): c.5750A> G (p.Asp1917Gly) single nucleotide variant Pathogenic/Likely pathogenic rs780270096 GRCh38 Chromosome 18, 70028797: 70028797
6 RTTN NM_173630.3(RTTN): c.5750A> G (p.Asp1917Gly) single nucleotide variant Pathogenic/Likely pathogenic rs780270096 GRCh37 Chromosome 18, 67696033: 67696033
7 RTTN NM_173630.3(RTTN): c.3190A> C (p.Lys1064Gln) single nucleotide variant Likely pathogenic rs864321621 GRCh38 Chromosome 18, 70127695: 70127695
8 RTTN NM_173630.3(RTTN): c.3190A> C (p.Lys1064Gln) single nucleotide variant Likely pathogenic rs864321621 GRCh37 Chromosome 18, 67794931: 67794931
9 RTTN NM_173630.3(RTTN): c.2885+8A> G single nucleotide variant Likely pathogenic rs864321620 GRCh38 Chromosome 18, 70135176: 70135176
10 RTTN NM_173630.3(RTTN): c.2885+8A> G single nucleotide variant Likely pathogenic rs864321620 GRCh37 Chromosome 18, 67802412: 67802412
11 RTTN NM_173630.3(RTTN): c.1732G> C (p.Ala578Pro) single nucleotide variant Likely pathogenic rs775277800 GRCh38 Chromosome 18, 70166989: 70166989
12 RTTN NM_173630.3(RTTN): c.1732G> C (p.Ala578Pro) single nucleotide variant Likely pathogenic rs775277800 GRCh37 Chromosome 18, 67834225: 67834225
13 RTTN NM_173630.3(RTTN): c.5185+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 18, 67721366: 67721366
14 RTTN NM_173630.3(RTTN): c.5185+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 18, 70054130: 70054130

Expression for Microcephaly, Short Stature, and Polymicrogyria with or Without...

Search GEO for disease gene expression data for Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures.

Pathways for Microcephaly, Short Stature, and Polymicrogyria with or Without...

GO Terms for Microcephaly, Short Stature, and Polymicrogyria with or Without...

Sources for Microcephaly, Short Stature, and Polymicrogyria with or Without...

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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