MSSP
MCID: MCR354
MIFTS: 31

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 57 72 29 6
Polymicrogyria with Seizures 57 72 13 39 70
Microcephaly, Short Stature, and Polymicrogyria with Seizures 57 29 6
Pmgys 57 72
Mssp 57 72
Microcephalic Primordial Dwarfism Due to Rttn Deficiency 58
Polymicrogyria with Seizures; Pmgys 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 : 72 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 kidney, bone and pons, 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 10.0

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 85)
# 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 spasticity 58 31 very rare (1%) Occasional (29-5%) HP:0001257
14 agenesis of corpus callosum 58 31 very rare (1%) Occasional (29-5%) HP:0001274
15 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
16 abnormal pyramidal sign 58 31 very rare (1%) Occasional (29-5%) HP:0007256
17 dysarthria 58 31 very rare (1%) Occasional (29-5%) HP:0001260
18 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
19 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
20 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
21 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
22 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
23 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
24 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
25 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
26 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
27 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
28 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
29 pelvic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000125
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 lobar holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006870
38 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
39 optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000543
40 ankle flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006466
41 cerebellar atrophy 58 31 very rare (1%) Occasional (29-5%) HP:0001272
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
Kidney, Bone, Pons, Cortex, Brain

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. 57 6
30121372 2018
2
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. 57 6
26940245 2016
3
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. 6 57
26608784 2015
4
RTTN mutations link primary cilia function to organization of the human cerebral cortex. 57 6
22939636 2012
5
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. 57
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 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RTTN NM_173630.4(RTTN):c.5185+1G>A SNV Pathogenic 436607 rs1555707336 GRCh37: 18:67721366-67721366
GRCh38: 18:70054130-70054130
2 RTTN NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr) SNV Pathogenic 37206 rs201884120 GRCh37: 18:67872503-67872503
GRCh38: 18:70205267-70205267
3 RTTN NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln) SNV Pathogenic 219185 rs864321621 GRCh37: 18:67794931-67794931
GRCh38: 18:70127695-70127695
4 RTTN NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro) SNV Pathogenic 219186 rs775277800 GRCh37: 18:67834225-67834225
GRCh38: 18:70166989-70166989
5 RTTN NM_173630.4(RTTN):c.2885+8A>G SNV Pathogenic 219184 rs864321620 GRCh37: 18:67802412-67802412
GRCh38: 18:70135176-70135176
6 RTTN NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly) SNV Pathogenic 219187 rs780270096 GRCh37: 18:67696033-67696033
GRCh38: 18:70028797-70028797
7 RTTN NM_173630.4(RTTN):c.5648-5T>A SNV Pathogenic 562178 rs1256028809 GRCh37: 18:67697350-67697350
GRCh38: 18:70030114-70030114
8 RTTN NM_173630.4(RTTN):c.2726del (p.Gly909fs) Deletion Pathogenic 1031271 GRCh37: 18:67806897-67806897
GRCh38: 18:70139661-70139661
9 RTTN NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly) SNV Pathogenic 977819 GRCh37: 18:67801710-67801710
GRCh38: 18:70134474-70134474
10 RTTN NM_173630.4(RTTN):c.2701dup (p.Thr901fs) Duplication Pathogenic 1032536 GRCh37: 18:67806921-67806922
GRCh38: 18:70139685-70139686
11 RTTN NM_173630.4(RTTN):c.3943_3946del (p.Met1315fs) Deletion Pathogenic 1032537 GRCh37: 18:67759998-67760001
GRCh38: 18:70092762-70092765
12 RTTN NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe) SNV Pathogenic 68847 rs318240757 GRCh37: 18:67802509-67802509
GRCh38: 18:70135273-70135273
13 RTTN NM_173630.4(RTTN):c.4502G>A (p.Arg1501Gln) SNV Uncertain significance 1032538 GRCh37: 18:67742650-67742650
GRCh38: 18:70075414-70075414
14 RTTN NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn) SNV Uncertain significance 996942 GRCh37: 18:67741180-67741180
GRCh38: 18:70073944-70073944
15 RTTN NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) SNV Uncertain significance 130194 rs34989098 GRCh37: 18:67673697-67673697
GRCh38: 18:70006461-70006461
16 RTTN NM_173630.4(RTTN):c.5174A>C (p.Lys1725Thr) SNV Uncertain significance 561099 rs200883952 GRCh37: 18:67721378-67721378
GRCh38: 18:70054142-70054142
17 RTTN NM_173630.4(RTTN):c.350C>T (p.Ser117Leu) SNV Uncertain significance 1031272 GRCh37: 18:67871369-67871369
GRCh38: 18:70204133-70204133
18 RTTN NM_173630.4(RTTN):c.4028G>A (p.Ser1343Asn) SNV Uncertain significance 1031273 GRCh37: 18:67759916-67759916
GRCh38: 18:70092680-70092680
19 RTTN NM_173630.4(RTTN):c.4443A>T (p.Leu1481Phe) SNV Uncertain significance 1031274 GRCh37: 18:67742709-67742709
GRCh38: 18:70075473-70075473
20 RTTN NM_173630.4(RTTN):c.4864G>A (p.Asp1622Asn) SNV Uncertain significance 281568 rs886042189 GRCh37: 18:67727162-67727162
GRCh38: 18:70059926-70059926
21 RTTN NM_173630.4(RTTN):c.487+2T>G SNV Uncertain significance 1031275 GRCh37: 18:67869128-67869128
GRCh38: 18:70201892-70201892
22 RTTN NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met) SNV Uncertain significance 389771 rs781683199 GRCh37: 18:67727149-67727149
GRCh38: 18:70059913-70059913
23 RTTN NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln) SNV Uncertain significance 1031276 GRCh37: 18:67684651-67684651
GRCh38: 18:70017415-70017415
24 RTTN NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys) SNV Uncertain significance 444437 rs368918234 GRCh37: 18:67834219-67834219
GRCh38: 18:70166983-70166983
25 RTTN NM_173630.4(RTTN):c.29T>C (p.Leu10Pro) SNV Uncertain significance 930363 GRCh37: 18:67872866-67872866
GRCh38: 18:70205630-70205630
26 RTTN NM_173630.4(RTTN):c.1067T>C (p.Met356Thr) SNV Uncertain significance 931427 GRCh37: 18:67857896-67857896
GRCh38: 18:70190660-70190660

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

72
# 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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