MCID: CHM001
MIFTS: 17

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 57 59 73
Cataract-Hypertrichosis-Intellectual Disability Syndrome 59
Cataract, Hypertrichosis, Mental Retardation Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
cataract-hypertrichosis-intellectual disability syndrome
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cahmr syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 211770
Orphanet 59 ORPHA1375
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 74 C0796282
MedGen 42 C0796282
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation

Hair:
generalized hypertrichosis, back, shoulders, and face

Eyes:
congenital lamellar cataracts


Clinical features from OMIM:

211770

Human phenotypes related to Cahmr Syndrome:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
5 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
6 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
7 congenital cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000519
8 abnormality of the palate 59 Very frequent (99-80%)
9 generalized hypertrichosis 32 HP:0004554
10 lamellar cataract 32 HP:0007971
11 abnormal palate morphology 32 hallmark (90%) HP:0000174

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:

41
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 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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