APMR4
MCID: ALP109
MIFTS: 17

Alopecia-Mental Retardation Syndrome 4 (APMR4)

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

Aliases & Classifications for Alopecia-Mental Retardation Syndrome 4

MalaCards integrated aliases for Alopecia-Mental Retardation Syndrome 4:

Name: Alopecia-Mental Retardation Syndrome 4 56 6
Apmr4 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
inter- and intrafamilial clinical variability


Classifications:



External Ids:

OMIM 56 618840
OMIM Phenotypic Series 56 PS203650

Summaries for Alopecia-Mental Retardation Syndrome 4

OMIM : 56 Alopecia-mental retardation syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees (Besnard et al., 2019). For a discussion of genetic heterogeneity of alopecia-mental retardation syndrome, see APMR1 (203650). (618840)

MalaCards based summary : Alopecia-Mental Retardation Syndrome 4, is also known as apmr4. An important gene associated with Alopecia-Mental Retardation Syndrome 4 is LSS (Lanosterol Synthase). Affiliated tissues include skin.

Related Diseases for Alopecia-Mental Retardation Syndrome 4

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 4

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
motor delay
central hypotonia
intellectual disability, mild to severe
unable to sit unsupported
more
Skin Nails Hair Hair:
alopecia universalis

Genitourinary External Genitalia Male:
hypospadias (in some patients)
micropenis (rare)

Genitourinary Internal Genitalia Male:
cryptorchidism (rare)

Neurologic Peripheral Nervous System:
peripheral hypertonia (in some patients)

Skin Nails Hair Skin:
ichthyosis
erythroderma (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
agitation
autism spectrum disorder
attention deficit

Head And Neck Head:
microcephaly (in some patients)

Skin Nails Hair Nails:
hypoplastic nails (rare)

Laboratory Abnormalities:
normal or low cholesterol

Clinical features from OMIM:

618840

Drugs & Therapeutics for Alopecia-Mental Retardation Syndrome 4

Search Clinical Trials , NIH Clinical Center for Alopecia-Mental Retardation Syndrome 4

Genetic Tests for Alopecia-Mental Retardation Syndrome 4

Anatomical Context for Alopecia-Mental Retardation Syndrome 4

MalaCards organs/tissues related to Alopecia-Mental Retardation Syndrome 4:

40
Skin

Publications for Alopecia-Mental Retardation Syndrome 4

Articles related to Alopecia-Mental Retardation Syndrome 4:

# Title Authors PMID Year
1
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. 56 6
30723320 2019
2
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 6 56
30401459 2018

Variations for Alopecia-Mental Retardation Syndrome 4

ClinVar genetic disease variations for Alopecia-Mental Retardation Syndrome 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LSS NM_002340.6(LSS):c.423G>A (p.Trp141Ter)SNV Pathogenic 599322 rs1569036540 21:47642549-47642549 21:46222635-46222635
2 LSS NM_002340.6(LSS):c.625A>T (p.Asn209Tyr)SNV Pathogenic 599323 rs754230211 21:47639412-47639412 21:46219498-46219498
3 LSS NM_002340.6(LSS):c.1547A>G (p.Asn516Ser)SNV Pathogenic 834064 21:47626603-47626603 21:46206689-46206689
4 LSS NM_002340.6(LSS):c.2114C>A (p.Thr705Lys)SNV Pathogenic 834065 21:47611103-47611103 21:46191189-46191189
5 LSS NM_002340.6(LSS):c.779G>C (p.Arg260Pro)SNV Pathogenic 834066 21:47636307-47636307 21:46216393-46216393
6 LSS NM_002340.6(LSS):c.1194+5G>ASNV Pathogenic 834067 21:47630597-47630597 21:46210683-46210683
7 LSS NM_002340.6(LSS):c.35G>A (p.Gly12Asp)SNV Pathogenic 834068 21:47648493-47648493 21:46228579-46228579

Expression for Alopecia-Mental Retardation Syndrome 4

Search GEO for disease gene expression data for Alopecia-Mental Retardation Syndrome 4.

Pathways for Alopecia-Mental Retardation Syndrome 4

GO Terms for Alopecia-Mental Retardation Syndrome 4

Sources for Alopecia-Mental Retardation Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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