MSSP
MCID: MCR354
MIFTS: 30

Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures (MSSP)

Categories: Fetal diseases, Genetic diseases, Neuronal 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 56 73 29 6
Polymicrogyria with Seizures 56 73 13 39 71
Microcephaly, Short Stature, and Polymicrogyria with Seizures 56 29 6
Pmgys 56 73
Mssp 56 73
Microcephalic Primordial Dwarfism Due to Rttn Deficiency 58
Polymicrogyria with Seizures; Pmgys 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present
two unrelated families have been reported (last curated september 2012)


HPO:

31
microcephaly, short stature, and polymicrogyria with or without seizures:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

UniProtKB/Swiss-Prot : 73 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, also known as polymicrogyria with seizures, is related to methane production, 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, bone and kidney, and related phenotypes are abnormal facial shape and microcephaly

More information from OMIM: 614833

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

Diseases related to Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methane production 10.3

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

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

58 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
2 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
3 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
4 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
5 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
6 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
7 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
8 polymicrogyria 58 31 very rare (1%) Frequent (79-30%) HP:0002126
9 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
10 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
11 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
12 severe failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001525
13 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
14 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
15 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
16 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
17 abnormal pyramidal sign 58 31 very rare (1%) Occasional (29-5%) HP:0007256
18 spasticity 58 31 very rare (1%) Occasional (29-5%) HP:0001257
19 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
20 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
21 dysarthria 58 31 very rare (1%) Occasional (29-5%) HP:0001260
22 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
23 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
24 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
25 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
26 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
27 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
28 pelvic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000125
29 agenesis of corpus callosum 58 31 very rare (1%) Occasional (29-5%) HP:0001274
30 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
31 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
32 microretrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000308
33 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
34 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
35 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005487
36 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
37 cerebellar atrophy 58 31 very rare (1%) Occasional (29-5%) HP:0001272
38 lobar holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006870
39 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
40 optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000543
41 ankle flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006466
42 unilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000122
43 knee flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006380
44 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
45 duodenal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002247
46 abnormality of the periventricular white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002518
47 optic nerve hypoplasia 58 31 very rare (1%) Occasional (29-5%) HP:0000609
48 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
49 sacrococcygeal pilonidal abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0010767
50 arachnoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100702

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
dysarthria
abnormal eeg
spasticity (in some patients)
mental retardation, moderate to severe
more
Head And Neck Mouth:
microstomia

Head And Neck Eyes:
microphthalmia (1 patient)
rudimentary retinal vasculature (1 patient)
hypoplastic optic nerves (1 patient)

Head And Neck Head:
microcephaly, mild to severe (up to -10 sd)

Genitourinary Kidneys:
decreased kidney volume (1 patient)
pyelocaliectasis, bilateral (1 patient)

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Growth Height:
short stature, mild

Skeletal:
gracile bones

Abdomen:
situs solitus

Clinical features from OMIM:

614833

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
2 Microcephaly, Short Stature, and Polymicrogyria with Seizures 29

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:

40
Brain, Bone, Kidney, Pons, Cortex

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

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

# Title Authors PMID Year
1
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. 6 56
30121372 2018
2
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. 6 56
26940245 2016
3
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 6 56
26608784 2015
4
RTTN mutations link primary cilia function to organization of the human cerebral cortex. 56 6
22939636 2012
5
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 56
29967526 2018
6
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. 61
27292112 2016
7
Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. 61
26604144 2016

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

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

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RTTN NM_173630.4(RTTN):c.5185+1G>ASNV Pathogenic 436607 rs1555707336 18:67721366-67721366 18:70054130-70054130
2 RTTN NM_173630.4(RTTN):c.5648-5T>ASNV Pathogenic 562178 rs1256028809 18:67697350-67697350 18:70030114-70030114
3 RTTN RTTN, ARG985GLYSNV Pathogenic 624635
4 RTTN NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe)SNV Pathogenic 68847 rs318240757 18:67802509-67802509 18:70135273-70135273
5 RTTN NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly)SNV Pathogenic/Likely pathogenic 219187 rs780270096 18:67696033-67696033 18:70028797-70028797
6 RTTN NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln)SNV Likely pathogenic 219185 rs864321621 18:67794931-67794931 18:70127695-70127695
7 RTTN NM_173630.4(RTTN):c.2885+8A>GSNV Likely pathogenic 219184 rs864321620 18:67802412-67802412 18:70135176-70135176
8 RTTN NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro)SNV Likely pathogenic 219186 rs775277800 18:67834225-67834225 18:70166989-70166989
9 RTTN NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)SNV Conflicting interpretations of pathogenicity 130194 rs34989098 18:67673697-67673697 18:70006461-70006461
10 RTTN NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr)SNV Uncertain significance 37206 rs201884120 18:67872503-67872503 18:70205267-70205267
11 RTTN NM_173630.4(RTTN):c.5174A>C (p.Lys1725Thr)SNV Uncertain significance 561099 rs200883952 18:67721378-67721378 18:70054142-70054142

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

73
# Symbol AA change Variation ID SNP ID
1 RTTN p.Cys27Tyr VAR_069094 rs201884120
2 RTTN p.Leu932Phe VAR_069095 rs318240757

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...

3 CDC
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10 dbSNP
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17 EFO
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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