MHAC
MCID: MCR025
MIFTS: 33

Microhydranencephaly (MHAC)

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

Aliases & Classifications for Microhydranencephaly

MalaCards integrated aliases for Microhydranencephaly:

Name: Microhydranencephaly 57 20 72 36 13 39 70
Mhac 57 20 58 72
Nde1-Related Microhydranencephaly 58 29 6
Hydranencephaly and Microcephaly 57 20

Characteristics:

Orphanet epidemiological data:

58
nde1-related microhydranencephaly
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
microhydranencephaly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Microhydranencephaly

GARD : 20 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 microcephaly and microlissencephaly, 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 fetal brain, 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) (Updated 05-Apr-2021)

KEGG : 36 Microhydranencephaly (MHAC) is a serious developmental brain anomaly characterized by microcephaly with severe reduction of brain hemispheres and intracranial space filled with cerebrospinal fluid without signs of intracranial hypertension. In the patients with MHAC, homozygous mutations in NDE1 gene have been identifed.

UniProtKB/Swiss-Prot : 72 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 : 73 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 microcephaly 10.2
2 microlissencephaly 10.0
3 hydranencephaly 10.0
4 cleft lip 10.0
5 cleft lip/palate 10.0
6 anencephaly 9.9
7 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
8 lissencephaly 9.9
9 cerebral degeneration 9.9
10 diabetes insipidus 9.9
11 intracranial hypertension 9.9
12 fetal brain disruption sequence 9.9

Graphical network of the top 20 diseases related to Microhydranencephaly:



Diseases related to Microhydranencephaly

Symptoms & Phenotypes for Microhydranencephaly

Human phenotypes related to Microhydranencephaly:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 hyperreflexia 31 HP:0001347
3 macrotia 31 HP:0000400
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 spastic tetraplegia 31 HP:0002510
7 intellectual disability, severe 31 HP:0010864
8 skeletal muscle atrophy 31 HP:0003202
9 talipes equinovarus 31 HP:0001762
10 multiple joint contractures 31 HP:0002828
11 intellectual disability, progressive 31 HP:0006887
12 ventriculomegaly 31 HP:0002119
13 proptosis 31 HP:0000520
14 prominent nasal bridge 31 HP:0000426
15 profound global developmental delay 31 HP:0012736
16 cerebellar hypoplasia 31 HP:0001321
17 pachygyria 31 HP:0001302
18 sloping forehead 31 HP:0000340
19 athetosis 31 HP:0002305
20 hydranencephaly 31 HP:0002324
21 self-mutilation 31 HP:0000742
22 hypoplasia of the brainstem 31 HP:0002365
23 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
hyperreflexia
pachygyria
athetosis
hydranencephaly
more
Skeletal:
multiple joint contractures

Head And Neck Face:
sloping forehead

Muscle Soft Tissue:
muscle atrophy

Skeletal Feet:
equinovarus

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

Growth Height:
short stature

Head And Neck Nose:
prominent nasal bridge

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 (Updated 05-Apr-2021)

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 Nde1-Related Microhydranencephaly 29 NDE1

Anatomical Context for Microhydranencephaly

MalaCards organs/tissues related to Microhydranencephaly:

40
Brain, Cerebellum, Fetal Brain, Skeletal Muscle, Bone

Publications for Microhydranencephaly

Articles related to Microhydranencephaly:

(show all 30)
# Title Authors PMID Year
1
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. 6 57 61
22526350 2012
2
The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. 61 6 57
10762554 2000
3
Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships. 57
15108206 2004
4
Fetal brain disruption sequence in sisters. 57
7588968 1995
5
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. 57
2884728 1987
6
Interactive Effects of Copper Sources and a High Level of Phytase in Phosphorus-Deficient Diets on Growth Performance, Nutrient Digestibility, Tissue Mineral Concentrations, and Plasma Parameters in Nursery Pigs. 61
33432510 2021
7
Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review. 61
33176733 2020
8
Effects of mineral methionine hydroxy analog chelate in sow diets on epigenetic modification and growth of progeny. 61
32841352 2020
9
Interactive effects of zinc and copper sources and phytase on growth performance, mineral digestibility, bone mineral concentrations, oxidative status, and gut morphology in nursery pigs. 61
32705073 2020
10
Meso-macroporous crack-free nanohydroxyapatite coatings templated by C12 E10 diblock copolymer on Ti6Al4V implant materials toward human osteoblast-like cells. 61
31846185 2020
11
Effect of dietary copper sources on performance, gastric ghrelin-RNA expression, and growth hormone concentrations in serum in piglets. 61
31581297 2019
12
Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 61
30637988 2019
13
Chemotherapy of metastatic hepatoid adenocarcinoma: Literature review and two case reports with cisplatin etoposide. 61
29387209 2018
14
Effectiveness of an Interdisciplinary Medical Hospital Admission Center: The Role of the Dental Section in the Interdisciplinary System for Perioperative Management of Patients Awaiting Surgery. 61
28444559 2017
15
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. 61
25755095 2015
16
Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil. 61
25789781 2015
17
The development of perceived maternal hostile, aggressive conflict from adolescence to early adulthood: antecedents and outcomes. 61
25085751 2014
18
Hostile, aggressive family conflict trajectories during the transition to adulthood: associations with adolescent Big Five and emerging adulthood adjustment problems. 61
24388703 2014
19
Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence. 61
20375726 2010
20
MHAC--an assessment tool for analysing manual material handling tasks. 61
18534157 2008
21
Moraxella catarrhalis strain O35E expresses two filamentous hemagglutinin-like proteins that mediate adherence to human epithelial cells. 61
17371858 2007
22
A two-component hydroxylase involved in the assimilation of 3-hydroxyphenyl acetate in Pseudomonas putida. 61
15866873 2005
23
DNA probe attachment on plastic surfaces and microfluidic hybridization array channel devices with sample oscillation. 61
12729603 2003
24
Characteristics of multidimensional holographic associative memory in retrieval with dynamically localizable attention. 61
18252464 1998
25
Holographic image archive. 61
8954232 1996
26
Protecting the rights of detained patients. 61
9009596 1996
27
The Mental Health Advice Centre in Lewisham. 61
10288509 1988
28
The nonspecific clearance function of the reticuloendothelial system in patients with immune complex mediated diseases before and after therapeutic plasmapheresis. 61
3983532 1985
29
In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. 61
6702901 1984
30
The relative efficiency of DL-methionine and methionine hydroxy analogue-calcium (MHAC) in the diet of turkey poults. 61
605000 1977

Variations for Microhydranencephaly

ClinVar genetic disease variations for Microhydranencephaly:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDE1 NM_017668.2(NDE1):c.-43-3548_83+622del Deletion Pathogenic 224608 GRCh37: 16:15755045-15759340
GRCh38: 16:15661188-15665483
2 NDE1 NM_017668.3(NDE1):c.155C>T (p.Thr52Met) SNV Uncertain significance 211577 rs148118152 GRCh37: 16:15761214-15761214
GRCh38: 16:15667357-15667357
3 NDE1 NM_017668.3(NDE1):c.302C>T (p.Ala101Val) SNV Uncertain significance 287331 rs201587506 GRCh37: 16:15771722-15771722
GRCh38: 16:15677865-15677865
4 NDE1 NM_017668.3(NDE1):c.701G>A (p.Arg234His) SNV Uncertain significance 435935 rs138255766 GRCh37: 16:15785178-15785178
GRCh38: 16:15691321-15691321
5 NDE1 NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) SNV Uncertain significance 159020 rs146284370 GRCh37: 16:15790642-15790642
GRCh38: 16:15696785-15696785
6 NDE1 NM_017668.3(NDE1):c.568A>G (p.Arg190Gly) SNV Uncertain significance 1030209 GRCh37: 16:15785045-15785045
GRCh38: 16:15691188-15691188

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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