IHPRF2
MCID: HYP698
MIFTS: 29

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 (IHPRF2)

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

Aliases & Classifications for Hypotonia, Infantile, with Psychomotor Retardation and...

MalaCards integrated aliases for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

Name: Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 57 72 29 6
Ihprf2 57 72
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies, Type 2 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth or early infancy


HPO:

31
hypotonia, infantile, with psychomotor retardation and characteristic facies 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypotonia, Infantile, with Psychomotor Retardation and...

OMIM® : 57 Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419). (616801) (Updated 05-Apr-2021)

MalaCards based summary : Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2, also known as ihprf2, is related to unc80 deficiency and hypotonia. An important gene associated with Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 is UNC80 (Unc-80 Homolog, NALCN Channel Complex Subunit). Affiliated tissues include brain, and related phenotypes are scoliosis and dyskinesia

UniProtKB/Swiss-Prot : 72 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2: An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures.

Related Diseases for Hypotonia, Infantile, with Psychomotor Retardation and...

Diseases in the Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 family:

Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Diseases related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 unc80 deficiency 11.0
2 hypotonia 9.9
3 infantile hypotonia 9.9
4 hypotonia-speech impairment-severe cognitive delay syndrome 9.9

Symptoms & Phenotypes for Hypotonia, Infantile, with Psychomotor Retardation and...

Human phenotypes related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 dyskinesia 31 occasional (7.5%) HP:0100660
3 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
4 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
5 hip contracture 31 occasional (7.5%) HP:0003273
6 cerebral atrophy 31 occasional (7.5%) HP:0002059
7 seizure 31 occasional (7.5%) HP:0001250
8 microcephaly 31 very rare (1%) HP:0000252
9 absent speech 31 very rare (1%) HP:0001344
10 cachexia 31 very rare (1%) HP:0004326
11 profound global developmental delay 31 very rare (1%) HP:0012736
12 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
13 esotropia 31 very rare (1%) HP:0000565
14 facial hypotonia 31 very rare (1%) HP:0000297
15 appendicular hypotonia 31 very rare (1%) HP:0012389
16 spasticity 31 HP:0001257
17 frontal bossing 31 HP:0002007
18 ptosis 31 HP:0000508
19 nystagmus 31 HP:0000639
20 constipation 31 HP:0002019
21 short neck 31 HP:0000470
22 osteopenia 31 HP:0000938
23 smooth philtrum 31 HP:0000319
24 anteverted nares 31 HP:0000463
25 brachycephaly 31 HP:0000248
26 prominent forehead 31 HP:0011220
27 low-set ears 31 HP:0000369
28 failure to thrive in infancy 31 HP:0001531
29 epicanthus 31 HP:0000286
30 open mouth 31 HP:0000194
31 thin upper lip vermilion 31 HP:0000219
32 prominent nasal bridge 31 HP:0000426
33 short philtrum 31 HP:0000322
34 bulbous nose 31 HP:0000414
35 broad forehead 31 HP:0000337
36 high forehead 31 HP:0000348
37 severe global developmental delay 31 HP:0011344
38 triangular face 31 HP:0000325
39 tapered finger 31 HP:0001182
40 plagiocephaly 31 HP:0001357
41 feeding difficulties 31 HP:0011968
42 posteriorly rotated ears 31 HP:0000358
43 prominent nose 31 HP:0000448
44 intellectual disability, profound 31 HP:0002187
45 generalized hypotonia 31 HP:0001290
46 inability to walk 31 HP:0002540
47 poor speech 31 HP:0002465
48 global brain atrophy 31 HP:0002283
49 profound static encephalopathy 31 HP:0007069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation (in some patients)

Head And Neck Eyes:
ptosis
nystagmus
strabismus
esotropia
epicanthal folds
more
Head And Neck Neck:
short neck

Head And Neck Nose:
anteverted nares
prominent nasal bridge
bulbous nose

Head And Neck Mouth:
open mouth
thin upper lip

Skeletal Spine:
scoliosis (in some patients)

Skeletal Pelvis:
hip contractures (in some patients)

Head And Neck Face:
frontal bossing
smooth philtrum
short philtrum
high forehead
triangular face
more
Abdomen Gastrointestinal:
constipation
poor feeding

Head And Neck Head:
microcephaly
brachycephaly
plagiocephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Central Nervous System:
encephalopathy
intellectual disability, profound
cerebral atrophy (in some patients)
global developmental delay, severe
inability to walk independently
more
Skeletal Hands:
tapering fingers

Muscle Soft Tissue:
hypotonia, severe, persistent
disuse muscle atrophy

Clinical features from OMIM®:

616801 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypotonia, Infantile, with Psychomotor Retardation and...

Search Clinical Trials , NIH Clinical Center for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Genetic Tests for Hypotonia, Infantile, with Psychomotor Retardation and...

Genetic tests related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

# Genetic test Affiliating Genes
1 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 29 UNC80

Anatomical Context for Hypotonia, Infantile, with Psychomotor Retardation and...

MalaCards organs/tissues related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

40
Brain

Publications for Hypotonia, Infantile, with Psychomotor Retardation and...

Articles related to Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

# Title Authors PMID Year
1
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. 6 57
26545877 2016
2
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 57 6
26708753 2016
3
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. 57 6
26708751 2016
4
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). 61 6
30167850 2018
5
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies. 61
33229923 2021
6
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 61
30771478 2019
7
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). 61
29430593 2018
8
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. 61
29572195 2018

Variations for Hypotonia, Infantile, with Psychomotor Retardation and...

ClinVar genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

6 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UNC80 NM_032504.1(UNC80):c.565G>A (p.Val189Met) SNV Pathogenic 219190 rs864321623 GRCh37: 2:210642248-210642248
GRCh38: 2:209777524-209777524
2 UNC80 NM_032504.1(UNC80):c.151C>T (p.Arg51Ter) SNV Pathogenic 222017 rs869025320 GRCh37: 2:210640622-210640622
GRCh38: 2:209775898-209775898
3 UNC80 NM_032504.1(UNC80):c.8116C>T (p.Arg2706Ter) SNV Pathogenic 684712 rs1575183610 GRCh37: 2:210836982-210836982
GRCh38: 2:209972258-209972258
4 UNC80 NM_032504.1(UNC80):c.520C>T (p.Arg174Ter) SNV Pathogenic 684713 rs751913925 GRCh37: 2:210642203-210642203
GRCh38: 2:209777479-209777479
5 UNC80 NM_182587.4(UNC80):c.1679_1680AC[1] (p.Thr561fs) Microsatellite Pathogenic 684714 rs1574579609 GRCh37: 2:210682662-210682663
GRCh38: 2:209817938-209817939
6 UNC80 NM_032504.1(UNC80):c.5671C>T (p.Arg1891Ter) SNV Pathogenic 684715 rs1262654975 GRCh37: 2:210794657-210794657
GRCh38: 2:209929933-209929933
7 UNC80 NM_032504.1(UNC80):c.601-1G>A SNV Pathogenic 684717 rs1574434743 GRCh37: 2:210650789-210650789
GRCh38: 2:209786065-209786065
8 UNC80 NM_001371986.1(UNC80):c.3358-1G>C SNV Pathogenic 801862 rs1186997983 GRCh37: 2:210707073-210707073
GRCh38: 2:209842349-209842349
9 UNC80 NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter) SNV Pathogenic 801863 rs1574855486 GRCh37: 2:210742690-210742690
GRCh38: 2:209877966-209877966
10 UNC80 NM_001371986.1(UNC80):c.6646+1del Deletion Pathogenic 976333 GRCh37: 2:210804376-210804376
GRCh38: 2:209939652-209939652
11 UNC80 NM_032504.1(UNC80):c.8573_8574del (p.Lys2858fs) Deletion Pathogenic 488633 rs1553621490 GRCh37: 2:210841026-210841027
GRCh38: 2:209976302-209976303
12 UNC80 NM_032504.1(UNC80):c.4150G>T (p.Glu1384Ter) SNV Pathogenic 431144 rs981874506 GRCh37: 2:210752852-210752852
GRCh38: 2:209888128-209888128
13 UNC80 NM_032504.1(UNC80):c.2399del (p.Leu800fs) Deletion Pathogenic 431143 rs1135401813 GRCh37: 2:210690696-210690696
GRCh38: 2:209825972-209825972
14 UNC80 NM_032504.1(UNC80):c.1653_1654dup (p.Asp552fs) Duplication Pathogenic 545906 rs1553527439 GRCh37: 2:210682635-210682636
GRCh38: 2:209817911-209817912
15 UNC80 NM_001371986.1(UNC80):c.3042-1G>T SNV Pathogenic 1028452 GRCh37: 2:210703945-210703945
GRCh38: 2:209839221-209839221
16 UNC80 NM_001371986.1(UNC80):c.1696C>T (p.Arg566Ter) SNV Pathogenic 1028448 GRCh37: 2:210683719-210683719
GRCh38: 2:209818995-209818995
17 UNC80 NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) SNV Pathogenic/Likely pathogenic 219189 rs200659479 GRCh37: 2:210678443-210678443
GRCh38: 2:209813719-209813719
18 UNC80 NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) SNV Likely pathogenic 219188 rs864321622 GRCh37: 2:210737641-210737641
GRCh38: 2:209872917-209872917
19 UNC80 NM_032504.1(UNC80):c.6607G>A (p.Asp2203Asn) SNV Likely pathogenic 268208 rs886041094 GRCh37: 2:210806103-210806103
GRCh38: 2:209941379-209941379
20 UNC80 NM_032504.1(UNC80):c.8574+2T>G SNV Likely pathogenic 453302 rs1553621496 GRCh37: 2:210841029-210841029
GRCh38: 2:209976305-209976305
21 UNC80 NM_032504.1(UNC80):c.8058+2T>G SNV Likely pathogenic 684716 rs1575179679 GRCh37: 2:210835683-210835683
GRCh38: 2:209970959-209970959
22 UNC80 NM_032504.1(UNC80):c.5098C>T (p.Pro1700Ser) SNV Likely pathogenic 222010 rs869025316 GRCh37: 2:210783340-210783340
GRCh38: 2:209918616-209918616
23 UNC80 NM_032504.1(UNC80):c.7757T>A (p.Leu2586Ter) SNV Likely pathogenic 222013 rs869025319 GRCh37: 2:210832310-210832310
GRCh38: 2:209967586-209967586
24 UNC80 NM_032504.1(UNC80):c.7607G>C (p.Arg2536Thr) SNV Likely pathogenic 222011 rs869025317 GRCh37: 2:210824431-210824431
GRCh38: 2:209959707-209959707
25 UNC80 NM_032504.1(UNC80):c.2033del (p.Asn678fs) Deletion Likely pathogenic 222012 rs869025318 GRCh37: 2:210685103-210685103
GRCh38: 2:209820379-209820379
26 UNC80 NM_001371986.1(UNC80):c.1357del (p.Arg453fs) Deletion Likely pathogenic 829816 rs1574574226 GRCh37: 2:210681653-210681653
GRCh38: 2:209816929-209816929
27 UNC80 NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) Deletion Likely pathogenic 829817 rs1575147319 GRCh37: 2:210824326-210824327
GRCh38: 2:209959602-209959603
28 UNC80 NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) SNV Likely pathogenic 993028 GRCh37: 2:210642092-210642092
GRCh38: 2:209777368-209777368
29 UNC80 NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) SNV Conflicting interpretations of pathogenicity 718730 rs189916631 GRCh37: 2:210860104-210860104
GRCh38: 2:209995380-209995380
30 UNC80 NM_032504.1(UNC80):c.1806G>C (p.Gln602His) SNV Conflicting interpretations of pathogenicity 268207 rs200473652 GRCh37: 2:210683829-210683829
GRCh38: 2:209819105-209819105
31 UNC80 NM_032504.1(UNC80):c.9250C>T (p.Arg3084Cys) SNV Uncertain significance 548525 rs868379708 GRCh37: 2:210858090-210858090
GRCh38: 2:209993366-209993366
32 UNC80 NM_032504.1(UNC80):c.3883G>C (p.Glu1295Gln) SNV Uncertain significance 225080 rs187089611 GRCh37: 2:210742714-210742714
GRCh38: 2:209877990-209877990
33 UNC80 NM_001371986.1(UNC80):c.5618G>A (p.Arg1873His) SNV Uncertain significance 801864 rs1051195562 GRCh37: 2:210787063-210787063
GRCh38: 2:209922339-209922339
34 UNC80 NM_001371986.1(UNC80):c.7394C>T (p.Ala2465Val) SNV Uncertain significance 973277 GRCh37: 2:210818931-210818931
GRCh38: 2:209954207-209954207
35 UNC80 NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) SNV Uncertain significance 973306 GRCh37: 2:210846963-210846963
GRCh38: 2:209982239-209982239
36 UNC80 NM_032504.1(UNC80):c.9669T>A (p.His3223Gln) SNV Uncertain significance 452020 rs201312129 GRCh37: 2:210860211-210860211
GRCh38: 2:209995487-209995487
37 UNC80 NM_001371986.1(UNC80):c.9116A>T (p.Glu3039Val) SNV Uncertain significance 982105 GRCh37: 2:210843430-210843430
GRCh38: 2:209978706-209978706
38 UNC80 NM_001371986.1(UNC80):c.1910A>G (p.His637Arg) SNV Uncertain significance 1028449 GRCh37: 2:210683933-210683933
GRCh38: 2:209819209-209819209
39 UNC80 NM_001371986.1(UNC80):c.2213G>A (p.Gly738Glu) SNV Uncertain significance 1028450 GRCh37: 2:210685285-210685285
GRCh38: 2:209820561-209820561
40 UNC80 NM_001371986.1(UNC80):c.3020G>C (p.Arg1007Pro) SNV Uncertain significance 1028451 GRCh37: 2:210699713-210699713
GRCh38: 2:209834989-209834989
41 UNC80 NM_001371986.1(UNC80):c.3160A>C (p.Thr1054Pro) SNV Uncertain significance 1028453 GRCh37: 2:210704064-210704064
GRCh38: 2:209839340-209839340
42 UNC80 NM_001371986.1(UNC80):c.3283C>T (p.Leu1095=) SNV Uncertain significance 1028454 GRCh37: 2:210705298-210705298
GRCh38: 2:209840574-209840574
43 UNC80 NM_001371986.1(UNC80):c.3589A>G (p.Ile1197Val) SNV Uncertain significance 1028455 GRCh37: 2:210714309-210714309
GRCh38: 2:209849585-209849585
44 UNC80 NM_001371986.1(UNC80):c.7880G>A (p.Arg2627Gln) SNV Uncertain significance 1028456 GRCh37: 2:210832235-210832235
GRCh38: 2:209967511-209967511
45 UNC80 NM_032504.1(UNC80):c.8263A>G (p.Ser2755Gly) SNV Uncertain significance 597542 rs201695718 GRCh37: 2:210837868-210837868
GRCh38: 2:209973144-209973144
46 UNC80 NM_001371986.1(UNC80):c.8773-16T>C SNV Uncertain significance 1028457 GRCh37: 2:210841621-210841621
GRCh38: 2:209976897-209976897
47 UNC80 NM_001371986.1(UNC80):c.8815C>T (p.Arg2939Trp) SNV Uncertain significance 1028458 GRCh37: 2:210841679-210841679
GRCh38: 2:209976955-209976955
48 UNC80 NM_001371986.1(UNC80):c.9191G>A (p.Arg3064Gln) SNV Uncertain significance 1028459 GRCh37: 2:210846975-210846975
GRCh38: 2:209982251-209982251
49 UNC80 NM_001371986.1(UNC80):c.9274G>A (p.Asp3092Asn) SNV Uncertain significance 1028962 GRCh37: 2:210849596-210849596
GRCh38: 2:209984872-209984872
50 UNC80 NM_001371986.1(UNC80):c.1313T>C (p.Leu438Pro) SNV Uncertain significance 1031498 GRCh37: 2:210680093-210680093
GRCh38: 2:209815369-209815369

UniProtKB/Swiss-Prot genetic disease variations for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2:

72
# Symbol AA change Variation ID SNP ID
1 UNC80 p.Val189Met VAR_075874 rs864321623
2 UNC80 p.Pro1700Ser VAR_075875 rs869025316

Expression for Hypotonia, Infantile, with Psychomotor Retardation and...

Search GEO for disease gene expression data for Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2.

Pathways for Hypotonia, Infantile, with Psychomotor Retardation and...

GO Terms for Hypotonia, Infantile, with Psychomotor Retardation and...

Sources for Hypotonia, Infantile, with Psychomotor Retardation and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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