MCID: MHR002
MIFTS: 32

Mohr Syndrome

Categories: Rare diseases, Neuronal diseases, Ear diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Mohr Syndrome

MalaCards integrated aliases for Mohr Syndrome:

Name: Mohr Syndrome 57 76 53 59 73
Ofd2 57 53 59
Oral-Facial-Digital Syndrome Type 2 53 59
Orofaciodigital Syndrome Ii 57 53
Oral-Facial-Digital Syndrome, Type Ii 57
Oral-Facial-Digital Syndrome, Type 2 73
Oral Facial Digital Syndrome Type 2 53
Orofaciodigital Syndrome Ii; Ofd2 57
Orofaciodigital Syndrome Type 2 59
Oral Facial Digital Syndrome 2 53
Orofaciodigital Syndrome 2 53
Mohr Syndrome ) 40
Ofd Syndrome 2 53
Ofds Ii 57
Ofds 2 53

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
mohr syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 252100
Orphanet 59 ORPHA2751
MESH via Orphanet 45 C538585
UMLS via Orphanet 74 C0026363 C2931889
ICD10 via Orphanet 34 Q87.0
MedGen 42 C0026363
UMLS 73 C2931889

Summaries for Mohr Syndrome

NIH Rare Diseases : 53 Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet. It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. Signs and symptoms may include: cleft lip and/or palate, additional or fused fingers or toes (polydactyly or syndactyly), characteristic facial features, and congenital heart defects. Although it is highly suspected that OFDS 2 is genetic, the exact gene that causes the syndrome has not been identified. It is believed to be inherited in an autosomal recessive pattern. Although there is no specific treatment or cure for OFDS 2, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Mohr Syndrome, also known as ofd2, is related to orofaciodigital syndrome and polydactyly. An important gene associated with Mohr Syndrome is NEK1 (NIMA Related Kinase 1). Affiliated tissues include heart, tongue and bone, and related phenotypes are malar flattening and hypertelorism

Wikipedia : 76 Oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of... more...

Description from OMIM: 252100

Related Diseases for Mohr Syndrome

Diseases related to Mohr Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome 10.0
2 polydactyly 9.9
3 joubert syndrome 1 9.9
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
5 renal hypoplasia 9.8
6 cleft lip 9.8
7 skeletal dysplasias 9.8

Graphical network of the top 20 diseases related to Mohr Syndrome:



Diseases related to Mohr Syndrome

Symptoms & Phenotypes for Mohr Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus

Skeletal Spine:
scoliosis

Head And Neck Mouth:
cleft palate
tongue nodules
high-arched palate
midline cleft lip
hypertrophied frenula
more
Skeletal Hands:
brachydactyly
syndactyly
preaxial polydactyly
fifth finger clinodactyly
short hands
more
Neurologic Central Nervous System:
porencephaly
normal intelligence in majority
hydrocephaly

Head And Neck Ears:
conductive hearing loss

Skeletal Feet:
bilateral preaxial polydactyly
partial duplication of hallux
broad cuboid first metatarsal
extra cuneiform bone

Chest External Features:
pectus excavatum

Growth Height:
short stature

Skeletal Skull:
wormian bones
zygomatic arch hypoplasia
maxillar hypoplasia

Head And Neck Nose:
broad nasal tip
bifid nasal tip
low nasal bridge

Skeletal Limbs:
metaphyseal irregularity
metaphyseal flaring

Head And Neck Teeth:
absent central incisor


Clinical features from OMIM:

252100

Human phenotypes related to Mohr Syndrome:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 frequent (33%) HP:0000272
2 hypertelorism 32 HP:0000316
3 pectus excavatum 32 occasional (7.5%) HP:0000767
4 high palate 32 occasional (7.5%) HP:0000218
5 hydrocephalus 32 occasional (7.5%) HP:0000238
6 scoliosis 32 occasional (7.5%) HP:0002650
7 depressed nasal bridge 32 frequent (33%) HP:0005280
8 short stature 32 frequent (33%) HP:0004322
9 cleft palate 32 occasional (7.5%) HP:0000175
10 micrognathia 32 frequent (33%) HP:0000347
11 short palm 32 HP:0004279
12 wormian bones 32 occasional (7.5%) HP:0002645
13 telecanthus 32 frequent (33%) HP:0000506
14 clinodactyly of the 5th finger 32 frequent (33%) HP:0004209
15 hypoplasia of the maxilla 32 frequent (33%) HP:0000327
16 conductive hearing impairment 32 frequent (33%) HP:0000405
17 brachydactyly 32 frequent (33%) HP:0001156
18 broad nasal tip 32 frequent (33%) HP:0000455
19 preaxial hand polydactyly 32 frequent (33%) HP:0001177
20 postaxial hand polydactyly 32 frequent (33%) HP:0001162
21 postaxial foot polydactyly 32 frequent (33%) HP:0001830
22 median cleft lip 32 frequent (33%) HP:0000161
23 accessory oral frenulum 32 frequent (33%) HP:0000191
24 syndactyly 32 occasional (7.5%) HP:0001159
25 bifid tongue 32 frequent (33%) HP:0010297
26 preaxial foot polydactyly 32 frequent (33%) HP:0001841
27 bifid nasal tip 32 frequent (33%) HP:0000456
28 flared metaphysis 32 frequent (33%) HP:0003015
29 lobulated tongue 32 frequent (33%) HP:0000180
30 tongue nodules 32 frequent (33%) HP:0000199
31 metaphyseal irregularity 32 frequent (33%) HP:0003025
32 porencephalic cyst 32 occasional (7.5%) HP:0002132
33 bilateral postaxial polydactyly 32 HP:0006136
34 agenesis of central incisor 32 occasional (7.5%) HP:0006289
35 partial duplication of the phalanges of the hallux 32 HP:0010101

Drugs & Therapeutics for Mohr Syndrome

Search Clinical Trials , NIH Clinical Center for Mohr Syndrome

Genetic Tests for Mohr Syndrome

Anatomical Context for Mohr Syndrome

MalaCards organs/tissues related to Mohr Syndrome:

41
Heart, Tongue, Bone, Cerebellum

Publications for Mohr Syndrome

Articles related to Mohr Syndrome:

(show all 20)
# Title Authors Year
1
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). ( 27530628 )
2016
2
Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II). ( 26566416 )
2015
3
The unclassified variant: c.2044AD&amp;gt;G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype. ( 23732295 )
2013
4
Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful? ( 14966745 )
2004
5
Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. ( 12000897 )
2002
6
Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1. ( 10734352 )
1999
7
Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. ( 10521839 )
1999
8
Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings. ( 8835325 )
1995
9
Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). ( 2387087 )
1990
10
Prenatal diagnosis of Mohr syndrome by ultrasonography. ( 3911193 )
1985
11
Mohr syndrome variant or Joubert-Boltshauser syndrome? ( 6705246 )
1984
12
Mohr syndrome in two siblings. ( 6663289 )
1983
13
The Mohr syndrome: are there two variants? ( 6352094 )
1983
14
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? ( 6686259 )
1983
15
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome. ( 554046 )
1979
16
Heart malformation as a feature of the Mohr syndrome. ( 908999 )
1977
17
Mohr syndrome and skeletal dysplasia, ? New syndrome. ( 1227555 )
1975
18
Mohr syndrome or oral-facial-digital II: report of two cases. ( 4527225 )
1974
19
Mohr syndrome with subclinical expression of the bifid great toe. ( 4414705 )
1974
20
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). ( 5146584 )
1971

Variations for Mohr Syndrome

Expression for Mohr Syndrome

Search GEO for disease gene expression data for Mohr Syndrome.

Pathways for Mohr Syndrome

GO Terms for Mohr Syndrome

Sources for Mohr Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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