OFD17
MCID: ORF051
MIFTS: 24

Orofaciodigital Syndrome Xvii (OFD17)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Orofaciodigital Syndrome Xvii

MalaCards integrated aliases for Orofaciodigital Syndrome Xvii:

Name: Orofaciodigital Syndrome Xvii 58 12 76 6
Oral-Facial-Digital Syndrome, Type Xvii 58 76
Ofds Xvii 58 76
Ofd17 58 76
Orofaciodigital Syndrome 17 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated march 2018)


HPO:

33
orofaciodigital syndrome xvii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xvii

UniProtKB/Swiss-Prot : 76 Orofaciodigital syndrome 17: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD17 inheritance is autosomal recessive.

MalaCards based summary : Orofaciodigital Syndrome Xvii, is also known as oral-facial-digital syndrome, type xvii. An important gene associated with Orofaciodigital Syndrome Xvii is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include kidney, tongue and bone, and related phenotypes are low-set ears and short neck

Description from OMIM: 617926

Related Diseases for Orofaciodigital Syndrome Xvii

Symptoms & Phenotypes for Orofaciodigital Syndrome Xvii

Human phenotypes related to Orofaciodigital Syndrome Xvii:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 very rare (1%) HP:0000369
2 short neck 33 very rare (1%) HP:0000470
3 clinodactyly 33 very rare (1%) HP:0030084
4 hearing impairment 33 very rare (1%) HP:0000365
5 delayed speech and language development 33 very rare (1%) HP:0000750
6 short stature 33 very rare (1%) HP:0004322
7 retrognathia 33 very rare (1%) HP:0000278
8 high, narrow palate 33 very rare (1%) HP:0002705
9 inverted nipples 33 very rare (1%) HP:0003186
10 ventriculomegaly 33 very rare (1%) HP:0002119
11 tetralogy of fallot 33 very rare (1%) HP:0001636
12 renal hypoplasia 33 very rare (1%) HP:0000089
13 partial duplication of thumb phalanx 33 very rare (1%) HP:0009944
14 decreased body weight 33 very rare (1%) HP:0004325
15 prominent metopic ridge 33 very rare (1%) HP:0005487
16 micropenis 33 very rare (1%) HP:0000054
17 median cleft lip 33 very rare (1%) HP:0000161
18 prominent nose 33 very rare (1%) HP:0000448
19 clubbing of fingers 33 very rare (1%) HP:0100759
20 cns hypomyelination 33 very rare (1%) HP:0003429
21 central y-shaped metacarpal 33 very rare (1%) HP:0006145
22 polydactyly 33 very rare (1%) HP:0010442
23 short middle phalanx of the 2nd finger 33 very rare (1%) HP:0009577

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
hearing loss, bilateral

Growth Height:
short stature

Neurologic Central Nervous System:
ventriculomegaly
speech delay
hypomyelination of the corpus callosum

Genitourinary External Genitalia Male:
micropenis

Skeletal Hands:
clubbing of fingers
polydactyly, bilateral
bifid thumb, unilateral
y-shaped central metacarpals, bilateral
hypoplastic middle phalanx of index finger
more
Growth Weight:
low weight

Chest Breasts:
inverted nipples, bilateral

Skeletal Feet:
polydactyly, bilateral
bifid great toe, bilateral

Head And Neck Neck:
short neck

Head And Neck Face:
retrognathia
prominent metopic ridge

Cardiovascular Heart:
tetralogy of fallot

Head And Neck Nose:
prominent nose

Head And Neck Mouth:
high-arched palate
midline cleft upper lip
nodular tongue

Skin Nails Hair Hair:
low hairline

Genitourinary Kidneys:
small kidneys, bilateral

Skin Nails Hair Skin:
bluish discoloration of fingertips

Clinical features from OMIM:

617926

Drugs & Therapeutics for Orofaciodigital Syndrome Xvii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xvii

Genetic Tests for Orofaciodigital Syndrome Xvii

Anatomical Context for Orofaciodigital Syndrome Xvii

MalaCards organs/tissues related to Orofaciodigital Syndrome Xvii:

42
Kidney, Tongue, Bone, Eye

Publications for Orofaciodigital Syndrome Xvii

Articles related to Orofaciodigital Syndrome Xvii:

# Title Authors Year
1
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. ( 27158779 )
2016

Variations for Orofaciodigital Syndrome Xvii

ClinVar genetic disease variations for Orofaciodigital Syndrome Xvii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INTU NM_015693.3(INTU): c.396delT (p.Asn132Lysfs) deletion Pathogenic rs1553970289 GRCh37 Chromosome 4, 128564925: 128564925
2 INTU NM_015693.3(INTU): c.396delT (p.Asn132Lysfs) deletion Pathogenic rs1553970289 GRCh38 Chromosome 4, 127643770: 127643770

Expression for Orofaciodigital Syndrome Xvii

Search GEO for disease gene expression data for Orofaciodigital Syndrome Xvii.

Pathways for Orofaciodigital Syndrome Xvii

GO Terms for Orofaciodigital Syndrome Xvii

Sources for Orofaciodigital Syndrome Xvii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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