MCID: CLB033
MIFTS: 22

Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Categories: Genetic diseases, Bone diseases, Ear 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 75 29 6
Commad Syndrome 57 75 40
Commad 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 (Melanogenesis Associated Transcription Factor). Affiliated tissues include skin and eye, and related phenotypes are macrocephaly and micrognathia

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 10.3
2 microphthalmia 10.3
3 albinism 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 micrognathia 32 HP:0000347
3 posteriorly rotated ears 32 HP:0000358
4 shallow orbits 32 HP:0000586
5 coloboma 32 HP:0000589
6 generalized hypotonia 32 HP:0001290
7 frontal bossing 32 HP:0002007
8 preauricular pit 32 HP:0004467
9 osteopetrosis 32 HP:0011002

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,...

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

41
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:

75
# Symbol AA change Variation ID SNP ID
1 MITF p.Lys313Asn VAR_077922 rs1057519325Coloboma,
2 MITF p.Arg324Gly VAR_077923 rs1057519326Coloboma,

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 GRCh37 Chromosome 3, 70005620: 70005622
2 MITF NM_000248.3(MITF): c.649_651delAGA (p.Arg217del) deletion Pathogenic 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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