COMMAD
MCID: CLB033
MIFTS: 24

Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness (COMMAD)

Categories: Bone diseases, Ear diseases, Genetic diseases

Aliases & Classifications for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

MalaCards integrated aliases for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:

Name: Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 57 72 29 6
Commad Syndrome 57 72
Commad 57 72
Syndrome, Commad 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 2 patients (last curated january 2017)
heterozygous family members have waardenburg syndrome, type 2a (ws2a, )


HPO:

31
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

UniProtKB/Swiss-Prot : 72 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness: An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis.

MalaCards based summary : Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, also known as commad syndrome, is related to tietz albinism-deafness syndrome and coloboma of macula. An important gene associated with Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness is MITF (Melanocyte Inducing Transcription Factor). Related phenotypes are macrocephaly and frontal bossing

More information from OMIM: 617306

Related Diseases for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Diseases related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tietz albinism-deafness syndrome 10.4
2 coloboma of macula 10.4
3 waardenburg syndrome, type 2a 10.4
4 branchiootic syndrome 1 10.4
5 microphthalmia 10.4
6 osteopetrosis 10.4
7 waardenburg's syndrome 10.4
8 albinism 10.4

Graphical network of the top 20 diseases related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:



Diseases related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Symptoms & Phenotypes for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Human phenotypes related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 frontal bossing 31 HP:0002007
3 micrognathia 31 HP:0000347
4 microphthalmia 31 HP:0000568
5 preauricular pit 31 HP:0004467
6 posteriorly rotated ears 31 HP:0000358
7 osteopetrosis 31 HP:0011002
8 generalized hypotonia 31 HP:0001290
9 coloboma 31 HP:0000589
10 shallow orbits 31 HP:0000586

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Head And Neck Ears:
posteriorly rotated ears
preauricular pits
hearing loss, profound congenital sensorineural

Head And Neck Eyes:
coloboma
shallow orbits
lack of iris pigment
severe microphthalmia
microcornea with pannus (in 1 patient)
more
Chest Ribs Sternum Clavicles And Scapulae:
diffuse expansion of anterior ends of ribs
increased density of anterior ribs

Skeletal Limbs:
increased density of femoral heads

Skin Nails Hair Hair:
lack of pigment in hair

Head And Neck Face:
frontal bossing
micrognathia (in 1 patient)

Skeletal:
osteopetrosis

Head And Neck Mouth:
wide palatine ridges (in 1 patient)

Skeletal Spine:
increased density of vertebral bodies

Skin Nails Hair Skin:
lack of pigment in skin

Neurologic Central Nervous System:
hypotonia, mild generalized (in 1 patient)

Clinical features from OMIM®:

617306 (Updated 05-Apr-2021)

Drugs & Therapeutics for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Search Clinical Trials , NIH Clinical Center for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Genetic Tests for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Genetic tests related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:

# Genetic test Affiliating Genes
1 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 29 MITF

Anatomical Context for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Publications for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Articles related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:

# Title Authors PMID Year
1
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 57 6 61
27889061 2016
2
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. 6
18510545 2008
3
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). 6
9546825 1998
4
The mutational spectrum in Waardenburg syndrome. 6
8589691 1995
5
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. 6
13985019 1963

Variations for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

ClinVar genetic disease variations for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MITF NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) SNV Pathogenic 375215 rs1057519325 GRCh37: 3:70001021-70001021
GRCh38: 3:69951870-69951870
2 MITF NM_001354604.2(MITF):c.956-1G>A SNV Pathogenic 375217 rs1057519327 GRCh37: 3:70005605-70005605
GRCh38: 3:69956454-69956454
3 MITF NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) SNV Pathogenic 375216 rs1057519326 GRCh37: 3:70005620-70005620
GRCh38: 3:69956469-69956469
4 MITF NM_001354604.2(MITF):c.964_966AGA[2] (p.Arg324del) Microsatellite Pathogenic 14272 rs1553704814 GRCh37: 3:70005612-70005614
GRCh38: 3:69956461-69956463

UniProtKB/Swiss-Prot genetic disease variations for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:

72
# Symbol AA change Variation ID SNP ID
1 MITF p.Lys313Asn VAR_077922 rs105751932
2 MITF p.Arg324Gly VAR_077923 rs105751932

Expression for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Search GEO for disease gene expression data for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

Pathways for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

GO Terms for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

Sources for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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