MCID: MCR025
MIFTS: 29

Microhydranencephaly

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

Aliases & Classifications for Microhydranencephaly

MalaCards integrated aliases for Microhydranencephaly:

Name: Microhydranencephaly 57 53 75 37 29 13 6 40 73
Mhac 57 53 59 75
Hydranencephaly and Microcephaly 57 53
Nde1-Related Microhydranencephaly 59

Characteristics:

Orphanet epidemiological data:

59
nde1-related microhydranencephaly
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microhydranencephaly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microhydranencephaly

NIH Rare Diseases : 53 Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Microhydranencephaly, also known as mhac, is related to fetal brain disruption sequence and microcephaly, and has symptoms including athetosis and myoclonic seizures. An important gene associated with Microhydranencephaly is NDE1 (NudE Neurodevelopment Protein 1). Affiliated tissues include brain, cerebellum and skeletal muscle, and related phenotypes are agenesis of corpus callosum and hyperreflexia

OMIM : 57 Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012). (605013)

UniProtKB/Swiss-Prot : 75 Microhydranencephaly: A severe neurodevelopmental disorder characterized by microcephaly, severe motor and mental retardation, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development.

Wikipedia : 76 Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both... more...

Related Diseases for Microhydranencephaly

Diseases related to Microhydranencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fetal brain disruption sequence 9.9
2 microcephaly 9.9
3 hydranencephaly 9.9
4 cleft lip 9.9
5 cleft lip/palate 9.9

Graphical network of the top 20 diseases related to Microhydranencephaly:



Diseases related to Microhydranencephaly

Symptoms & Phenotypes for Microhydranencephaly

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
agenesis of corpus callosum
hyperreflexia
pachygyria
athetosis
hydranencephaly
more
Head And Neck Nose:
prominent nasal bridge

Skeletal:
multiple joint contractures

Muscle Soft Tissue:
muscle atrophy

Skeletal Feet:
equinovarus

Head And Neck Head:
microcephaly, severe (-5+ sd), progressive

Growth Height:
short stature

Head And Neck Face:
sloping forehead

Neurologic Behavioral Psychiatric Manifestations:
self-mutilation

Head And Neck Ears:
large ears

Head And Neck Eyes:
exophthalmia
atrophic optic fundi

Skeletal Skull:
scalp rugae


Clinical features from OMIM:

605013

Human phenotypes related to Microhydranencephaly:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 hyperreflexia 32 HP:0001347
3 macrotia 32 HP:0000400
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 spastic tetraplegia 32 HP:0002510
7 intellectual disability, severe 32 HP:0010864
8 skeletal muscle atrophy 32 HP:0003202
9 generalized myoclonic seizures 32 HP:0002123
10 ventriculomegaly 32 HP:0002119
11 prominent nasal bridge 32 HP:0000426
12 intellectual disability, progressive 32 HP:0006887
13 cerebellar hypoplasia 32 HP:0001321
14 talipes equinovarus 32 HP:0001762
15 proptosis 32 HP:0000520
16 pachygyria 32 HP:0001302
17 sloping forehead 32 HP:0000340
18 athetosis 32 HP:0002305
19 hydranencephaly 32 HP:0002324
20 profound global developmental delay 32 HP:0012736
21 multiple joint contractures 32 HP:0002828
22 self-mutilation 32 HP:0000742
23 hypoplasia of the brainstem 32 HP:0002365

UMLS symptoms related to Microhydranencephaly:


athetosis, myoclonic seizures

Drugs & Therapeutics for Microhydranencephaly

Search Clinical Trials , NIH Clinical Center for Microhydranencephaly

Genetic Tests for Microhydranencephaly

Genetic tests related to Microhydranencephaly:

# Genetic test Affiliating Genes
1 Microhydranencephaly 29 NDE1

Anatomical Context for Microhydranencephaly

MalaCards organs/tissues related to Microhydranencephaly:

41
Brain, Cerebellum, Skeletal Muscle, Fetal Brain

Publications for Microhydranencephaly

Articles related to Microhydranencephaly:

# Title Authors Year
1
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. ( 22526350 )
2012
2
Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence. ( 20375726 )
2010
3
The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. ( 10762554 )
2000
4
MID-LINE CLEFT LIP AND PALATE WITH HYDRANENCEPHALY AND MICROCEPHALY. ( 14116025 )
1964

Variations for Microhydranencephaly

ClinVar genetic disease variations for Microhydranencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NDE1 NM_017668.2(NDE1): c.-43-3548_83+622del deletion Pathogenic GRCh38 Chromosome 16, 15661188: 15665483

Expression for Microhydranencephaly

Search GEO for disease gene expression data for Microhydranencephaly.

Pathways for Microhydranencephaly

GO Terms for Microhydranencephaly

Sources for Microhydranencephaly

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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