NEDMCR
MCID: NRD046
MIFTS: 18

Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities (NEDMCR)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

Name: Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities 58 76 6
Nedmcr 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in childhood may occur
three unrelated consanguineous families have been reported (last curated march 2018)


HPO:

33
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities:
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities: An autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities, is also known as nedmcr. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities is GEMIN4 (Gem Nuclear Organelle Associated Protein 4). Affiliated tissues include brain and kidney, and related phenotypes are optic atrophy and aminoaciduria

Description from OMIM: 617913

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 very rare (1%) HP:0000648
2 aminoaciduria 33 very rare (1%) HP:0003355
3 seizures 33 HP:0001250
4 dysphagia 33 HP:0002015
5 cataract 33 HP:0000518
6 global developmental delay 33 HP:0001263
7 gastroesophageal reflux 33 HP:0002020
8 absent speech 33 HP:0001344
9 inability to walk 33 HP:0002540
10 renal hypoplasia 33 HP:0000089
11 hydronephrosis 33 HP:0000126
12 poor head control 33 HP:0002421
13 delayed myelination 33 HP:0012448
14 calcinosis 33 HP:0003761

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia

Head And Neck Head:
microcephaly

Skeletal Pelvis:
congenital hip dislocation

Genitourinary Kidneys:
hydronephrosis
calcinosis
small kidneys
tubulopathy, variable

Head And Neck Eyes:
cataracts
optic atrophy (1 patient)

Growth Other:
poor overall growth

Cardiovascular Vascular:
hypertension secondary to renal disease

Neurologic Central Nervous System:
seizures
inability to walk
poor head control
delayed myelination
head lag
more
Head And Neck Face:
micrognathia

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor swallowing
gastroesophageal reflux disease

Laboratory Abnormalities:
aminoaciduria (in some patients)
electrolyte abnormalities due to renal disease (in some patients)

Clinical features from OMIM:

617913

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

42
Brain, Kidney

Publications for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Articles related to Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

# Title Authors Year
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ( 25558065 )
2015

Variations for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GEMIN4 NM_015721.2(GEMIN4): c.2452T> C (p.Trp818Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882219 GRCh38 Chromosome 17, 745591: 745591
2 GEMIN4 NM_015721.2(GEMIN4): c.2452T> C (p.Trp818Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882219 GRCh37 Chromosome 17, 648831: 648831

Expression for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities.

Pathways for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

Sources for Neurodevelopmental Disorder with Microcephaly, Cataracts, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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