ODCD2
MCID: ODN026
MIFTS: 12

Odontochondrodysplasia 2 with Hearing Loss and Diabetes (ODCD2)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

MalaCards integrated aliases for Odontochondrodysplasia 2 with Hearing Loss and Diabetes:

Name: Odontochondrodysplasia 2 with Hearing Loss and Diabetes 57
Ondontochondrodysplasia 2 with Hearing Loss and Diabetes 57
Odcd2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 4 turkish brothers (last curated april 2021)


Classifications:



External Ids:

OMIM® 57 619269
OMIM Phenotypic Series 57 PS184260

Summaries for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

OMIM® : 57 Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability (Cauwels et al., 2005; Lekszas et al., 2020). For a discussion of genetic heterogeneity of ODCD, see ODCD1 (184260). (619269) (Updated 20-May-2021)

MalaCards based summary : Odontochondrodysplasia 2 with Hearing Loss and Diabetes, is also known as ondontochondrodysplasia 2 with hearing loss and diabetes. An important gene associated with Odontochondrodysplasia 2 with Hearing Loss and Diabetes is MIA3 (MIA SH3 Domain ER Export Factor 3).

Related Diseases for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Symptoms & Phenotypes for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
platyspondyly, mild

Genitourinary Kidneys:
nephropathy
hydronephrosis (junctional stenosis)

Skeletal Hands:
brachydactyly
cone-shaped epiphyses
fifth-finger clinodactyly

Respiratory Airways:
asthma

Head And Neck Teeth:
dentinogenesis imperfecta
delayed eruption of permanent teeth
premature tooth loss
opalescent tooth discoloration
bulbous crowns
more
Skin Nails Hair Skin:
pruritis

Endocrine Features:
insulin-dependent diabetes mellitus

Growth Other:
intrauterine growth retardation (iugr)

Neurologic Central Nervous System:
impaired intellectual development, mild

Head And Neck Eyes:
retinopathy, mild

Skeletal:
osteopenia

Head And Neck Face:
retrognathia
short philtrum

Skeletal Feet:
brachydactyly

Head And Neck Nose:
prominent nose
high nasal bridge

Laboratory Abnormalities:
microalbuminuria

Head And Neck Ears:
hearing loss, sensorineural

Growth Height:
short stature, proportionate

Skeletal Limbs:
prominent knees

Growth Weight:
obesity, primary

Clinical features from OMIM®:

619269 (Updated 20-May-2021)

Drugs & Therapeutics for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Search Clinical Trials , NIH Clinical Center for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Genetic Tests for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Anatomical Context for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Publications for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Articles related to Odontochondrodysplasia 2 with Hearing Loss and Diabetes:

# Title Authors PMID Year
1
Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance? 57
16011615 2005

Variations for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Expression for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Search GEO for disease gene expression data for Odontochondrodysplasia 2 with Hearing Loss and Diabetes.

Pathways for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

GO Terms for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

Sources for Odontochondrodysplasia 2 with Hearing Loss and Diabetes

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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