MCID: MLT161
MIFTS: 28

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly

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

Aliases & Classifications for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

MalaCards integrated aliases for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

Name: Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 37
Hydranencephaly with Renal Aplasia-Dysplasia 57 75 29 6
March 57 75
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome 59
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and Hydranencephaly 75
March Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero or within minutes after birth


HPO:

32
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 236500
Orphanet 59 ORPHA500135
MedGen 42 C1856053
KEGG 37 H01937

Summaries for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

OMIM : 57 MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017). (236500)

MalaCards based summary : Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly, also known as hydranencephaly with renal aplasia-dysplasia, is related to yusho disease and influenza. An important gene associated with Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly is CEP55 (Centrosomal Protein 55). Affiliated tissues include kidney, brain and skin, and related phenotypes are renal hypoplasia and renal agenesis

UniProtKB/Swiss-Prot : 75 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly: An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. MARCH results in death in utero or in the perinatal period.

Related Diseases for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Diseases related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 yusho disease 10.9
2 influenza 10.0
3 poliomyelitis 9.9
4 measles 9.9
5 hepatitis 9.9
6 muscular dystrophy 9.8
7 muscular dystrophy, congenital, lmna-related 9.7
8 diphtheria 9.7
9 diarrhea 9.7
10 dracunculiasis 9.7
11 neuroendocrine tumor 9.7
12 avian influenza 9.7
13 hemoglobinuria 9.7
14 rubella 9.7
15 lassa fever 9.7
16 aging 9.7
17 asthma 9.7
18 dermatitis, atopic 9.7
19 esophagitis, eosinophilic, 1 9.7
20 arthritis 9.7
21 cataract 9.7
22 hand, foot and mouth disease 9.7
23 rabies 9.7
24 esophagitis 9.7
25 cutaneous diphtheria 9.7
26 viral hepatitis 9.7
27 vaginitis 9.7
28 gastroenteritis 9.7
29 dermatitis 9.7
30 mouth disease 9.7
31 syphilis 9.7
32 conjunctivitis 9.7
33 bacterial conjunctivitis 9.7
34 neonatal abstinence syndrome 9.7
35 drug dependence 9.7
36 dysphagia 9.7
37 alzheimer disease 9.5
38 breast cancer 9.5
39 thrombophilia due to thrombin defect 9.5
40 phenylketonuria 9.5
41 gastrointestinal stromal tumor 9.5
42 pulmonary disease, chronic obstructive 9.5
43 allergic rhinitis 9.5
44 anxiety 9.5
45 legionnaire disease 9.5
46 aplastic anemia 9.5
47 malaria 9.5
48 gastric cancer 9.5
49 aspergillosis 9.5
50 glutathione peroxidase deficiency 9.5

Graphical network of the top 20 diseases related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:



Diseases related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly

Symptoms & Phenotypes for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
cystic hygroma
redundant neck skin

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
anhydramnios

Skeletal Feet:
toe syndactyly
club feet

Genitourinary Kidneys:
renal dysplasia
renal cysts
hypoplastic kidneys
absent kidneys

Skeletal:
arthrogryposis

Genitourinary Ureters:
absence of the ureters

Neurologic Central Nervous System:
cerebellar hypoplasia
hydranencephaly
brainstem hypoplasia
absence of the cerebral cortex
multinucleated neurons

Head And Neck Face:
microretrognathia
potter facies

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
fifth finger clinodactyly
fifth finger hypoplasia
single palmar crease

Head And Neck Nose:
pinched nose
choanal narrowing

Genitourinary Bladder:
absence of the bladder


Clinical features from OMIM:

236500

Human phenotypes related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

32
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia 32 HP:0000089
2 renal agenesis 32 HP:0000104
3 2-3 toe syndactyly 32 HP:0004691
4 hydranencephaly 32 HP:0002324
5 renal dysplasia 32 HP:0000110

Drugs & Therapeutics for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Search Clinical Trials , NIH Clinical Center for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly

Genetic Tests for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Genetic tests related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

# Genetic test Affiliating Genes
1 Hydranencephaly with Renal Aplasia-Dysplasia 29 CEP55

Anatomical Context for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

MalaCards organs/tissues related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

41
Kidney, Brain, Skin, Cortex

Publications for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Variations for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

ClinVar genetic disease variations for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP55 NM_001127182.1(CEP55): c.1274C> A (p.Ser425Ter) single nucleotide variant Pathogenic rs201430235 GRCh37 Chromosome 10, 95287789: 95287789
2 CEP55 NM_001127182.1(CEP55): c.1274C> A (p.Ser425Ter) single nucleotide variant Pathogenic rs201430235 GRCh38 Chromosome 10, 93528032: 93528032
3 CEP55 NM_001127182.1(CEP55): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic rs141458677 GRCh37 Chromosome 10, 95262942: 95262942
4 CEP55 NM_001127182.1(CEP55): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic rs141458677 GRCh38 Chromosome 10, 93503185: 93503185

Expression for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Search GEO for disease gene expression data for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly.

Pathways for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

GO Terms for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

Sources for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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