MARCH
MCID: MLT161
MIFTS: 31

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly (MARCH)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal 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
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and Hydranencephaly 12 75 15
March 57 12 75
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome 59
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:



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 proteasome-associated autoinflammatory syndrome 1 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 bone, and related phenotypes are cystic hygroma and talipes equinovarus

Disease Ontology : 12 A syndrome that is 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 and has material basis in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.

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 238)
# Related Disease Score Top Affiliating Genes
1 proteasome-associated autoinflammatory syndrome 1 11.1
2 influenza 10.1
3 measles 10.1
4 hepatitis 10.1
5 poliomyelitis 10.0
6 muscular dystrophy 10.0
7 myopathy, myosin storage, autosomal dominant 10.0
8 neuroendocrine tumor 9.9
9 dermatitis 9.9
10 ebola hemorrhagic fever 9.9
11 avian influenza 9.9
12 yellow fever 9.9
13 trichinosis 9.9
14 carcinoma showing thymus-like differentiation 9.9
15 neisseria meningitidis infection 9.9
16 asthma 9.9
17 dermatitis, atopic 9.9
18 diphtheria 9.9
19 hemoglobinuria 9.9
20 anxiety 9.8
21 muscular dystrophy, congenital, lmna-related 9.8
22 hepatitis a 9.8
23 diarrhea 9.8
24 dracunculiasis 9.8
25 gastroenteritis 9.8
26 milk allergy 9.8
27 conjunctivitis 9.8
28 rubella 9.8
29 lassa fever 9.8
30 bacterial conjunctivitis 9.8
31 syncope 9.8
32 dysphagia 9.8
33 encephalopathy 9.8
34 esterase c 9.7
35 pancreatic agenesis 1 9.7
36 arts syndrome 9.7
37 legionnaire disease 9.7
38 esophagitis, eosinophilic, 1 9.7
39 malaria 9.7
40 peyronie's disease 9.7
41 cataract 9.7
42 pemphigus foliaceus 9.7
43 colitis 9.7
44 thrombosis 9.7
45 legionnaires' disease 9.7
46 legionellosis 9.7
47 hand, foot and mouth disease 9.7
48 hypospadias 9.7
49 sarcoma 9.7
50 pertussis 9.7

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 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cystic hygroma 32 HP:0000476
2 talipes equinovarus 32 HP:0001762
3 cerebellar hypoplasia 32 HP:0001321
4 clinodactyly of the 5th finger 32 HP:0004209
5 renal hypoplasia 32 HP:0000089
6 oligohydramnios 32 HP:0001562
7 microretrognathia 32 HP:0000308
8 single transverse palmar crease 32 HP:0000954
9 renal agenesis 32 HP:0000104
10 renal cyst 32 HP:0000107
11 2-3 toe syndactyly 32 HP:0004691
12 hydranencephaly 32 HP:0002324
13 renal dysplasia 32 HP:0000110
14 redundant neck skin 32 HP:0005989
15 potter facies 32 HP:0002009
16 narrow nasal ridge 32 HP:0000418
17 hypoplasia of the brainstem 32 HP:0002365

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, Bone, Cortex, Skin, Colon, Bone Marrow

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
5 CEP55 NM_018131.4(CEP55): c.514dup (p.Ile172Asnfs) duplication Pathogenic GRCh37 Chromosome 10, 95266799: 95266799
6 CEP55 NM_018131.4(CEP55): c.514dup (p.Ile172Asnfs) duplication Pathogenic GRCh38 Chromosome 10, 93507042: 93507042

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...

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