Aliases & Classifications for Unc80 Deficiency

MalaCards integrated aliases for Unc80 Deficiency:

Name: Unc80 Deficiency 24 25
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-2 25
Ihprf2 25

Summaries for Unc80 Deficiency

Genetics Home Reference : 25 UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or early infancy. The disorder does not typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is slow and limited, but once skills are learned, they are usually retained. People with UNC80 deficiency have profound intellectual disability. Muscle tone is generally weak (hypotonia), but affected individuals may have increased muscle tone (hypertonia) in the arms and legs. Most people with this disorder never learn to walk. Some affected individuals have feeding difficulties because hypotonia leads to problems controlling movements of the mouth. Speech is also generally absent, although in some cases individuals have limited communication using body language, gestures, and signs. Seizures, involuntary side-to-side movements of the eyes (nystagmus), eyes that do not point in the same direction (strabismus), and a high-pitched cry can also occur in this disorder. People with UNC80 deficiency are of normal size at birth but grow slowly during infancy and childhood. Unusual facial features typically occur in this disorder, and vary among affected individuals. These features can include a wide, short skull (brachycephaly); a triangular face shape with a prominent forehead (frontal bossing); droopy eyelids (ptosis); folds of skin covering the inner corners of the eyes (epicanthal folds); outside corners of the eyes that point downward (downslanting palpebral fissures); a nose with a prominent bridge and a bulbous or upturned tip; a short, smooth space between the upper lip and nose (philtrum); a mouth that remains open; and low-set ears. Other physical differences that can occur in people with UNC80 deficiency include a short neck, abnormal curvature of the spine (scoliosis), permanently bent joints (contractures), and inward- and upward-turning feet (clubfeet).

MalaCards based summary : Unc80 Deficiency, also known as infantile hypotonia with psychomotor retardation and characteristic facies-2, is related to infantile hypotonia and strabismus. An important gene associated with Unc80 Deficiency is UNC80 (Unc-80 Homolog, NALCN Channel Complex Subunit). Affiliated tissues include skin and eye.

GeneReviews: NBK453434

Related Diseases for Unc80 Deficiency

Diseases related to Unc80 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 infantile hypotonia 10.2
2 strabismus 10.1
3 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 10.1
4 scoliosis 10.1
5 constipation 10.1
6 mechanical strabismus 10.1
7 pathologic nystagmus 10.1
8 hypertonia 10.1
9 hypotonia 10.1
10 hypotonia-speech impairment-severe cognitive delay syndrome 10.1

Graphical network of the top 20 diseases related to Unc80 Deficiency:



Diseases related to Unc80 Deficiency

Symptoms & Phenotypes for Unc80 Deficiency

Drugs & Therapeutics for Unc80 Deficiency

Search Clinical Trials , NIH Clinical Center for Unc80 Deficiency

Genetic Tests for Unc80 Deficiency

Anatomical Context for Unc80 Deficiency

MalaCards organs/tissues related to Unc80 Deficiency:

41
Skin, Eye

Publications for Unc80 Deficiency

Articles related to Unc80 Deficiency:

(show all 19)
# Title Authors PMID Year
1
Phenotypic evolution of UNC80 loss of function. 4
27513830 2016
2
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. 4
26545877 2016
3
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. 4
26708751 2016
4
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 4
26708753 2016
5
The sodium leak channel, NALCN, in health and disease. 4
24904279 2014
6
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. 4
24075186 2013
7
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. 4
23749988 2013
8
UNC79 and UNC80, putative auxiliary subunits of the NARROW ABDOMEN ion channel, are indispensable for robust circadian locomotor rhythms in Drosophila. 4
24223770 2013
9
Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex. 4
21040849 2010
10
Conserved role of unc-79 in ethanol responses in lightweight mutant mice. 4
20714347 2010
11
Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80. 4
19092807 2009
12
A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans. 4
18336069 2008
13
The sodium "leak" has finally been plugged. 4
17521564 2007
14
The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm. 4
17448995 2007
15
Overview of molecular relationships in the voltage-gated ion channel superfamily. 4
16382097 2005
16
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 38
30771478 2019
17
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). 38
29430593 2018
18
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. 38
29572195 2018
19
UNC80 Deficiency 38
28933810 2017

Variations for Unc80 Deficiency

Expression for Unc80 Deficiency

Search GEO for disease gene expression data for Unc80 Deficiency.

Pathways for Unc80 Deficiency

GO Terms for Unc80 Deficiency

Sources for Unc80 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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