COMMAD
MCID: CLB033
MIFTS: 22

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 58 76 30 6
Commad Syndrome 58 76 41
Commad 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 osteopetrosis and microphthalmia. An important gene associated with Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness is MITF (Melanocyte Inducing Transcription Factor). Affiliated tissues include skin and eye, and related phenotypes are macrocephaly and frontal bossing

Description 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 osteopetrosis 10.5
2 microphthalmia 10.5
3 albinism 10.5

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 frontal bossing 33 HP:0002007
3 micrognathia 33 HP:0000347
4 microphthalmia 33 HP:0000568
5 preauricular pit 33 HP:0004467
6 generalized hypotonia 33 HP:0001290
7 osteopetrosis 33 HP:0011002
8 posteriorly rotated ears 33 HP:0000358
9 coloboma 33 HP:0000589
10 shallow orbits 33 HP:0000586

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Skeletal:
osteopetrosis

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)

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

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

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 30 MITF

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

MalaCards organs/tissues related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness:

42
Skin, Eye

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

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

# Title Authors Year
1
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016

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

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

76
# Symbol AA change Variation ID SNP ID
1 MITF p.Lys313Asn VAR_077922 rs105751932
2 MITF p.Arg324Gly VAR_077923 rs105751932

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.649_651delAGA (p.Arg217del) deletion Pathogenic rs1553704814 GRCh37 Chromosome 3, 70005620: 70005622
2 MITF NM_000248.3(MITF): c.649_651delAGA (p.Arg217del) deletion Pathogenic rs1553704814 GRCh38 Chromosome 3, 69956469: 69956471
3 MITF NM_000248.3(MITF): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs1057519325 GRCh38 Chromosome 3, 69951870: 69951870
4 MITF NM_000248.3(MITF): c.618G> C (p.Lys206Asn) single nucleotide variant Pathogenic rs1057519325 GRCh37 Chromosome 3, 70001021: 70001021
5 MITF NM_000248.3(MITF): c.649A> G (p.Arg217Gly) single nucleotide variant Pathogenic rs1057519326 GRCh38 Chromosome 3, 69956469: 69956469
6 MITF NM_000248.3(MITF): c.649A> G (p.Arg217Gly) single nucleotide variant Pathogenic rs1057519326 GRCh37 Chromosome 3, 70005620: 70005620
7 MITF NM_000248.3(MITF): c.635-1G> A single nucleotide variant Pathogenic rs1057519327 GRCh38 Chromosome 3, 69956454: 69956454
8 MITF NM_000248.3(MITF): c.635-1G> A single nucleotide variant Pathogenic rs1057519327 GRCh37 Chromosome 3, 70005605: 70005605

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,...

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