OFD2
MCID: MHR002
MIFTS: 35

Mohr Syndrome (OFD2)

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

Aliases & Classifications for Mohr Syndrome

MalaCards integrated aliases for Mohr Syndrome:

Name: Mohr Syndrome 56 74 52 58 6 39 71
Ofd2 56 52 58
Oral-Facial-Digital Syndrome Type 2 52 58
Orofaciodigital Syndrome Ii 56 52
Oral-Facial-Digital Syndrome, Type Ii 56
Oral-Facial-Digital Syndrome, Type 2 71
Oral Facial Digital Syndrome Type 2 52
Orofaciodigital Syndrome Ii; Ofd2 56
Orofaciodigital Syndrome Type 2 58
Oral Facial Digital Syndrome 2 52
Orofaciodigital Syndrome 2 52
Ofd Syndrome 2 52
Ofds Ii 56
Ofds 2 52

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
mohr syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Mohr Syndrome

NIH Rare Diseases : 52 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 polydactyly and orofaciodigital syndrome. An important gene associated with Mohr Syndrome is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include tongue, heart and bone, and related phenotypes are wide nasal bridge and short stature

Wikipedia : 74 Oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of... more...

More information from OMIM: 252100

Related Diseases for Mohr Syndrome

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



Diseases related to Mohr Syndrome

Symptoms & Phenotypes for Mohr Syndrome

Human phenotypes related to Mohr Syndrome:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
2 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
3 high palate 58 31 occasional (7.5%) Frequent (79-30%) HP:0000218
4 micrognathia 58 31 frequent (33%) Occasional (29-5%) HP:0000347
5 conductive hearing impairment 58 31 frequent (33%) Occasional (29-5%) HP:0000405
6 telecanthus 58 31 frequent (33%) Occasional (29-5%) HP:0000506
7 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
8 abnormal oral frenulum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000190
9 postaxial hand polydactyly 58 31 frequent (33%) Occasional (29-5%) HP:0001162
10 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
11 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
12 submucous cleft soft palate 58 31 frequent (33%) Frequent (79-30%) HP:0011819
13 hamartoma of tongue 58 31 frequent (33%) Frequent (79-30%) HP:0011802
14 preaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001841
15 tongue nodules 58 31 frequent (33%) Frequent (79-30%) HP:0000199
16 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
17 hypoplasia of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000685
18 broad hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010055
19 y-shaped metacarpals 58 31 frequent (33%) Frequent (79-30%) HP:0006042
20 agenesis of central incisor 58 31 occasional (7.5%) Frequent (79-30%) HP:0006289
21 broad first metatarsal 58 31 frequent (33%) Frequent (79-30%) HP:0010068
22 complete duplication of hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010100
23 depressed nasal bridge 31 frequent (33%) HP:0005280
24 hypoplasia of the maxilla 31 frequent (33%) HP:0000327
25 brachydactyly 31 frequent (33%) HP:0001156
26 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
27 malar flattening 31 frequent (33%) HP:0000272
28 preaxial hand polydactyly 31 frequent (33%) HP:0001177
29 postaxial foot polydactyly 31 frequent (33%) HP:0001830
30 broad nasal tip 31 frequent (33%) HP:0000455
31 accessory oral frenulum 31 frequent (33%) HP:0000191
32 bifid nasal tip 31 frequent (33%) HP:0000456
33 lobulated tongue 31 frequent (33%) HP:0000180
34 flared metaphysis 31 frequent (33%) HP:0003015
35 metaphyseal irregularity 31 frequent (33%) HP:0003025
36 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
37 cleft palate 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000175
38 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
39 taurodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000679
40 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
41 atrioventricular canal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0006695
42 thick hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0100874
43 tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002789
44 cone-shaped epiphyses of the phalanges of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0010230
45 velopharyngeal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000220
46 arachnoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0100702
47 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
48 mesomelic leg shortening 58 31 occasional (7.5%) Occasional (29-5%) HP:0004987
49 polysyndactyly of hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0005873
50 talon cusp 58 31 occasional (7.5%) Occasional (29-5%) HP:0011087

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
telecanthus

Growth Height:
short stature

Chest External Features:
pectus excavatum

Skeletal Skull:
wormian bones
zygomatic arch hypoplasia
maxillar hypoplasia

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

Head And Neck Ears:
conductive hearing loss

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

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
bilateral postaxial polydactyly
fifth finger clinodactyly
more
Neurologic Central Nervous System:
porencephaly
normal intelligence in majority
hydrocephaly

Skeletal Limbs:
metaphyseal irregularity
metaphyseal flaring

Head And Neck Teeth:
absent central incisor

Clinical features from OMIM:

252100

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:

40
Tongue, Heart, Bone, Cerebellum

Publications for Mohr Syndrome

Articles related to Mohr Syndrome:

(show all 49)
# Title Authors PMID Year
1
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 56 61
23459408 2013
2
Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. 61 56
10521839 1999
3
Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. 56 61
10482880 1999
4
Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings. 61 56
8835325 1995
5
Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). 61 56
2387087 1990
6
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 61 56
3608220 1987
7
Mohr syndrome variant or Joubert-Boltshauser syndrome? 56 61
6705246 1984
8
The Mohr syndrome: are there two variants? 61 56
6352094 1983
9
Mohr syndrome with subclinical expression of the bifid great toe. 61 56
4414705 1974
10
Mohr syndrome or oral-facial-digital II: report of two cases. 56 61
4527225 1974
11
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). 56 61
5146584 1971
12
Central nervous system malformations in Mohr's syndrome. 56
2555513 1989
13
Oro-facial-digital syndrome II. 56
3359665 1988
14
Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. 56
6478638 1984
15
[The differential diagnosis of Papillon-Lénge-Psaume-syndrome and Mohr's syndrome]. 56
5488996 1970
16
Genetic and clinical heterogeneity in the oral-facial-digital syndromes. 56
5293864 1967
17
NEK1 kinase domain structure and its dynamic protein interactome after exposure to Cisplatin. 61
28710492 2017
18
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). 61
27530628 2016
19
Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II). 61
26566416 2015
20
Anesthetic considerations in a parturient with oral-facial-digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction. 61
24631061 2014
21
The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype. 61
23732295 2013
22
The S. pombe histone H2A dioxygenase Ofd2 regulates gene expression during hypoxia. 61
22235339 2012
23
Digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome? 61
24665281 2012
24
Schizosaccharomyces pombe Ofd2 is a nuclear 2-oxoglutarate and iron dependent dioxygenase interacting with histones. 61
21949882 2011
25
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. 61
17535085 2007
26
The contribution of electromyography to the diagnostics of some rare palatal anomalies. 61
15911014 2005
27
Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful? 61
14966745 2004
28
Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome. 61
12686930 2003
29
Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. 61
12000897 2002
30
Penile agenesis and clavicular anomaly in a child with an oral facial digital syndrome. 61
11822702 2002
31
[Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings]. 61
10683749 1999
32
Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1. 61
10734352 1999
33
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. 61
9555586 1998
34
Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? 61
8723090 1996
35
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. 61
8599362 1995
36
[Oro-facial-digital syndrome type II: clinical and cephalometric study of a case]. 61
2280786 1990
37
X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. 61
3229001 1988
38
Heterogeneity and variability in the oral-facial-digital syndromes. 61
3144982 1988
39
Prenatal diagnosis of Mohr syndrome by ultrasonography. 61
3911193 1985
40
[Mohr syndrome--symptoms and differential diagnosis]. 61
3160185 1985
41
Mohr syndrome in two siblings. 61
6663289 1983
42
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? 61
6686259 1983
43
[Mohr syndrome. Signs and genetic counseling]. 61
7300134 1981
44
[Mohr syndrome and unilateral bowing leg (author's transl)]. 61
555630 1979
45
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome. 61
554046 1979
46
[The Mohr syndrome (orofaciodigital syndrome type II). 1 familial case]. 61
492868 1979
47
Heart malformation as a feature of the Mohr syndrome. 61
908999 1977
48
Further heterogeneity of the oral-facial-digital syndromes. 61
179315 1976
49
Mohr syndrome and skeletal dysplasia, ? New syndrome. 61
1227555 1975

Variations for Mohr Syndrome

ClinVar genetic disease variations for Mohr Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INTU NM_015693.4(INTU):c.396del (p.Asn132fs)deletion Pathogenic/Likely pathogenic 504484 rs1553970289 4:128564925-128564925 4:127643770-127643770

Expression for Mohr Syndrome

Search GEO for disease gene expression data for Mohr Syndrome.

Pathways for Mohr Syndrome

GO Terms for Mohr Syndrome

Biological processes related to Mohr Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 NEK1 INTU
2 cell projection organization GO:0030030 8.62 NEK1 INTU

Sources for Mohr Syndrome

3 CDC
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11 DGIdb
17 EFO
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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