MCID: CHM001
MIFTS: 16

Cahmr Syndrome

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cahmr Syndrome

MalaCards integrated aliases for Cahmr Syndrome:

Name: Cahmr Syndrome 58 60 74
Cataract-Hypertrichosis-Intellectual Disability Syndrome 60
Cataract, Hypertrichosis, Mental Retardation Syndrome 58

Characteristics:

Orphanet epidemiological data:

60
cataract-hypertrichosis-intellectual disability syndrome
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cahmr syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 211770
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C0796282
Orphanet 60 ORPHA1375
MedGen 43 C0796282
UMLS 74 C0796282

Summaries for Cahmr Syndrome

MalaCards based summary : Cahmr Syndrome, is also known as cataract-hypertrichosis-intellectual disability syndrome. Affiliated tissues include skin and eye, and related phenotypes are pectus excavatum and intellectual disability

Description from OMIM: 211770

Related Diseases for Cahmr Syndrome

Symptoms & Phenotypes for Cahmr Syndrome

Human phenotypes related to Cahmr Syndrome:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
4 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
5 microdontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000691
6 low posterior hairline 60 33 hallmark (90%) Very frequent (99-80%) HP:0002162
7 developmental cataract 33 hallmark (90%) HP:0000519
8 abnormal palate morphology 33 hallmark (90%) HP:0000174
9 abnormality of the palate 60 Very frequent (99-80%)
10 congenital cataract 60 Very frequent (99-80%)
11 generalized hypertrichosis 33 HP:0004554
12 lamellar cataract 33 HP:0007971

Symptoms via clinical synopsis from OMIM:

58
Neuro:
mental retardation

Hair:
generalized hypertrichosis, back, shoulders, and face

Eyes:
congenital lamellar cataracts

Clinical features from OMIM:

211770

Drugs & Therapeutics for Cahmr Syndrome

Search Clinical Trials , NIH Clinical Center for Cahmr Syndrome

Genetic Tests for Cahmr Syndrome

Anatomical Context for Cahmr Syndrome

MalaCards organs/tissues related to Cahmr Syndrome:

42
Skin, Eye

Publications for Cahmr Syndrome

Variations for Cahmr Syndrome

Expression for Cahmr Syndrome

Search GEO for disease gene expression data for Cahmr Syndrome.

Pathways for Cahmr Syndrome

GO Terms for Cahmr Syndrome

Sources for Cahmr Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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