Frontometaphyseal Dysplasia 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FRN048 MIFTS: 29	Frontometaphyseal Dysplasia 2 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases
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Aliases & Classifications for Frontometaphyseal Dysplasia 2

MalaCards integrated aliases for Frontometaphyseal Dysplasia 2:

Name: Frontometaphyseal Dysplasia 2 ⁵⁷ ⁷⁵ ²⁹ ⁶

Fmd2 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

frontometaphyseal dysplasia 2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617137

MedGen ⁴² C4310697 CN238524

MeSH ⁴⁴ D010009

SNOMED-CT via HPO ⁶⁹ 263681008 397732007 398064005 more

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Summaries for Frontometaphyseal Dysplasia 2

OMIM : ⁵⁷ Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016). For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620). (617137)

MalaCards based summary : Frontometaphyseal Dysplasia 2, also known as fmd2, is related to frontometaphyseal dysplasia. An important gene associated with Frontometaphyseal Dysplasia 2 is MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7). The drugs Clopidogrel and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and uterus, and related phenotypes are neurogenic bladder and cryptorchidism

UniProtKB/Swiss-Prot : ⁷⁵ Frontometaphyseal dysplasia 2: A form of frontometaphyseal dysplasia, a progressive sclerosing skeletal dysplasia affecting the long bones and skull. Characteristic features include supraorbital hyperostosis, cranial hyperostosis, undermodeling of the small bones, flared metaphyses, and digital anomalies. Extra-skeletal manifestations include hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. FMD2 inheritance is autosomal dominant.

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Related Diseases for Frontometaphyseal Dysplasia 2

Diseases in the Frontometaphyseal Dysplasia family:

Frontometaphyseal Dysplasia 1

Frontometaphyseal Dysplasia 2

Diseases related to Frontometaphyseal Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	frontometaphyseal dysplasia	11.4

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Symptoms & Phenotypes for Frontometaphyseal Dysplasia 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
thick eyebrows
blue sclerae (rare)
full supraorbital region (in some patients)
more

Head And Neck Nose:
wide nasal bridge
broad nasal tip
low nasal bridge
grooving of nasal tip (in some patients)

Respiratory Airways:
tracheal stenosis

Skeletal Limbs:
dislocated radial head
flared metaphyses
flexion contractures of the elbows
limited supination/pronation of the elbows
flexion contractures of the wrists
more

Skeletal Feet:
short metatarsals
club feet
undermodeling of metatarsals
short distal phalanges of halluces

Neurologic Central Nervous System:
intellectual disability, mild (in some patients)

Abdomen Gastrointestinal:
gastroesophageal reflux (rare)
feeding difficulties in infancy (rare)
pyloric stenosis (rare)
ulcerative colitis (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (rare)
undermodeled ribs (in some patients)
deformed ribs (in some patients)

Skeletal Skull:
skull base sclerosis
dense skull
sclerosis of frontal bone
underdeveloped sinuses
narrowing of acoustic external canal
more

Skeletal Spine:
cervical vertebral fusion
scoliosis, mild to severe

Head And Neck Teeth:
noneruption of multiple permanent teeth irregularly implanted teeth

Abdomen External Features:
supraumbilical hernia (rare)

Genitourinary Internal Genitalia Female:
absent ovaries by ultrasound (rare)
absent uterus by ultrasound (rare)

Genitourinary Ureters:
bilateral hydroureters (rare)

Skin Nails Hair Skin:
keloid formation (in some patients)
soft translucent skin (rare)
deep sacral dimples (rare)

Head And Neck Face:
prominent supraorbital ridges
short philtrum
deep philtrum
small pointed chin
low anterior hairline (in some patients)
more

Cardiovascular Heart:
patent ductus arteriosus
bicuspid aortic valve
patent foramen ovale
pulmonary valve stenosis
aortic root dilation

Skeletal Hands:
camptodactyly
short metacarpals
ulnar deviation of hands
poorly modeled phalanges
fifth-finger clinodactyly
more

Respiratory Larynx:
subglottic stenosis
congenital stridor

Head And Neck Ears:
hearing loss, conductive
sensorineural hearing loss (in some patients)
low-set ears (in some patients)
malformed ears (in some patients)

Head And Neck Mouth:
cleft palate (in some patients)
bifid uvula (in some patients)
high palate (in some patients)
thin upper vermilion (in some patients)
pierre-robin sequence (rare)

Skeletal Pelvis:
hip contractures
congenital dislocation of the hip

Skin Nails Hair Hair:
hirsutism (in some patients)
low anterior hairline (in some patients)

Muscle Soft Tissue:
underdeveloped muscles (in some patients)

Growth Height:
stature below 10th centile

Head And Neck Neck:
short webbed neck (rare)
pterygium colli (rare)

GenitourinaryInternal GenitaliaMale:
undescended testes (rare)

Genitourinary Kidneys:
bilateral hydronephrosis (rare)

Genitourinary Bladder:
neurogenic bladder (rare)

Endocrine Features:
delayed puberty (rare)

Clinical features from OMIM:

617137

Human phenotypes related to Frontometaphyseal Dysplasia 2:

³² (show all 48)

#	Description	HPO Frequency	HPO Source Accession
1	neurogenic bladder ³²	occasional (7.5%)	HP:0000011
2	cryptorchidism ³²	occasional (7.5%)	HP:0000028
3	cleft palate ³²	occasional (7.5%)	HP:0000175
4	bifid uvula ³²	occasional (7.5%)	HP:0000193
5	pierre-robin sequence ³²	occasional (7.5%)	HP:0000201
6	high palate ³²	occasional (7.5%)	HP:0000218
7	full cheeks ³²	occasional (7.5%)	HP:0000293
8	low anterior hairline ³²	occasional (7.5%)	HP:0000294
9	pointed chin ³²		HP:0000307
10	hypertelorism ³²		HP:0000316
11	short philtrum ³²		HP:0000322
12	prominent supraorbital ridges ³²		HP:0000336
13	low-set ears ³²	occasional (7.5%)	HP:0000369
14	abnormality of the pinna ³²	occasional (7.5%)	HP:0000377
15	conductive hearing impairment ³²		HP:0000405
16	sensorineural hearing impairment ³²	occasional (7.5%)	HP:0000407
17	wide nasal bridge ³²		HP:0000431
18	broad nasal tip ³²		HP:0000455
19	webbed neck ³²	occasional (7.5%)	HP:0000465
20	downslanted palpebral fissures ³²		HP:0000494
21	thick eyebrow ³²		HP:0000574
22	blue sclerae ³²	occasional (7.5%)	HP:0000592
23	delayed puberty ³²	occasional (7.5%)	HP:0000823
24	hirsutism ³²	occasional (7.5%)	HP:0001007
25	intellectual disability, mild ³²	occasional (7.5%)	HP:0001256
26	congenital hip dislocation ³²		HP:0001374
27	subglottic stenosis ³²		HP:0001607
28	pulmonic stenosis ³²		HP:0001642
29	patent ductus arteriosus ³²		HP:0001643
30	bicuspid aortic valve ³²		HP:0001647
31	patent foramen ovale ³²		HP:0001655
32	talipes equinovarus ³²		HP:0001762
33	deep philtrum ³²		HP:0002002
34	gastroesophageal reflux ³²	occasional (7.5%)	HP:0002020
35	pyloric stenosis ³²	occasional (7.5%)	HP:0002021
36	scoliosis ³²		HP:0002650
37	tracheal stenosis ³²		HP:0002777
38	fused cervical vertebrae ³²		HP:0002949
39	dislocated radial head ³²		HP:0003083
40	decreased muscle mass ³²	occasional (7.5%)	HP:0003199
41	hip contracture ³²		HP:0003273
42	depressed nasal bridge ³²		HP:0005280
43	feeding difficulties in infancy ³²	occasional (7.5%)	HP:0008872
44	ulnar deviation of the hand ³²		HP:0009487
45	short metacarpal ³²		HP:0010049
46	short metatarsal ³²		HP:0010743
47	camptodactyly ³²		HP:0012385
48	ulcerative colitis ³²	occasional (7.5%)	HP:0100279

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Drugs & Therapeutics for Frontometaphyseal Dysplasia 2

Drugs for Frontometaphyseal Dysplasia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Clopidogrel

Approved

Phase 4

120202-66-6, 113665-84-2

60606

Synonyms:

( )-(S)-Clopidogrel

(+)-(S)-Clopidogrel

(+)-Clopidogrel

(S)-Clopidogrel

(S)-Methyl 2-(2-chlorophenyl)-2-(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)acetate

113665-84-2

AC-19024

AC1L1TKZ

AC1Q41I9

BIDD:GT0284

BMS Brand 1 OF clopidogrel bisulfate

BMS Brand 2 OF clopidogrel bisulfate

BRD-K27721098-065-02-9

BSPBio_003211

C16H16ClNO2S

CGE

CHEBI:37941

CHEMBL1771

CID60606

clopidogrel

Clopidogrel (INN)

Clopidogrel (TN)

Clopidogrel [Ban:Inn]

Clopidogrel [BAN:INN]

Clopidogrel [INN:BAN]

Clopidogrel besylate

Clopidogrel bisulfate

Clopidogrel bisulphate

Clopidogrel hydrochloride

Clopidogrel napadisilate

Clopidogrel sandoz

Clopidogrel sulfate

CLOPIDOGREL SULFATE

clopidogrel, (+)(S)-isomer

Clopidogrel, (+)(S)-isomer

Clopidogrel-mepha

clopidogrelum

Clopidogrelum

CPD000550475

D07729

DB00758

DivK1c_000787

HMS2090O21

HMS502H09

HSDB 7430

IDI1_000787

Iscover

Isocover

KBio1_000787

KBio2_000545

KBio2_003113

KBio2_005681

KBio3_002431

KBioGR_000689

KBioSS_000545

LS-172232

Methyl (+)-(S)-alpha-(o-chlorophenyl)-6,7-dihydrothieno(3,2-c)pyridine-5(4H)-acetate

methyl (2S)-(2-chlorophenyl)(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)ethanoate

methyl (2S)-2-(2-chlorophenyl)-2-(6,7-dihydro-4H-thieno[3,2-c]pyridin-5-yl)acetate

MLS001165708

MLS001195633

MLS001304711

MolPort-002-885-817

MolPort-003-845-991

NCGC00163329-02

nchem.651-comp8

NINDS_000787

Plavix

Plavix (TN)

SAM002589956

SMR000550475

SPBio_000463

Spectrum_000105

Spectrum2_000512

Spectrum3_001606

Spectrum4_000175

SR 25990

STK580572

STOCK5S-27782

TL8000400

UNII-A74586SNO7

Zyllt

Ticagrelor

Approved

Phase 4

274693-27-5

9871419

Ticlopidine

Approved

Phase 4

55142-85-3

5472

Synonyms:

5-((2-Chlorophenyl)methyl)-4,5,6,7-tetrahydrothieno(3,2-c)pyridine

5-(2-Chlorobenzyl)-4,5,6,7-tetrahydrothieno[3,2-c]pyridine

5-[(2-chlorophenyl)methyl]-4,5,6,7-tetrahydrothieno[3,2-c]pyridine

5-[(2-chlorophenyl)methyl]-6,7-dihydro-4H-thieno[3,2-c]pyridine

55142-85-3

AC-15204

AC1L1KFB

Almirall brand OF ticlopidine hydrochloride

BIDD:PXR0169

BPBio1_000191

BRD-K00603606-003-03-4

BRN 1216802

BSPBio_000173

C07140

C14H14ClNS

CAS-53885-35-1

CHEBI:9588

CHEMBL833

CID5472

D08594

DB00208

EINECS 259-498-5

HMS2089I18

Hydrochloride, ticlopidine

L001108

LS-152434

MLS001201825

MolPort-002-507-849

NCGC00016872-01

NCGC00016872-02

NCGC00024361-04

PCR 5332

Prestwick0_000047

Prestwick1_000047

Prestwick2_000047

Prestwick3_000047

Roche brand OF ticlopidine hydrochloride

SMR000641861

SPBio_002094

STK589340

STOCK5S-54105

Ticlid

Ticlodix

Ticlodone

Ticlopidina

Ticlopidina [INN-Spanish]

ticlopidine

Ticlopidine (INN)

Ticlopidine [INN:BAN]

Ticlopidine HCL

Ticlopidine hydrochloride

Ticlopidine Hydrochloride

Ticlopidin-Puren

Ticlopidin-Puren (TN)

Ticlopidinum

Ticlopidinum [INN-Latin]

UNII-OM90ZUW7M1

UNM-0000345023

Vitoria brand OF ticlopidine hydrochloride

ZINC19594599

Cytochrome P-450 Enzyme Inhibitors

Phase 4

Fibrinolytic Agents

Phase 4

Neurotransmitter Agents

Phase 4

Platelet Aggregation Inhibitors

Phase 4

Prasugrel hydrochloride

Phase 4

389574-19-0

Purinergic P2 Receptor Antagonists

Phase 4

Purinergic P2Y Receptor Antagonists

Phase 4

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Endothelium, Stenting, and Antiplatelet Therapy (EST) - Clopidogrel, Prasugrel, Ticagrelor Study	Completed	NCT01700322	Phase 4	Ticagrelor;Clopidogrel;Prasugrel

Search NIH Clinical Center for Frontometaphyseal Dysplasia 2

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Genetic Tests for Frontometaphyseal Dysplasia 2

Genetic tests related to Frontometaphyseal Dysplasia 2:

#	Genetic test	Affiliating Genes
1	Frontometaphyseal Dysplasia 2 ²⁹	MAP3K7

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Anatomical Context for Frontometaphyseal Dysplasia 2

MalaCards organs/tissues related to Frontometaphyseal Dysplasia 2:

⁴¹

Bone, Testes, Uterus, Ovary, Skin

Sources

Publications for Frontometaphyseal Dysplasia 2

Articles related to Frontometaphyseal Dysplasia 2:

#	Title	Authors	Year
1	Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. ( 29660408 )	Costantini A....MAokitie O.	2018

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Genes for Frontometaphyseal Dysplasia 2

Genes related to Frontometaphyseal Dysplasia 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	1328.17	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27426733 12503106 25899317

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Variations for Frontometaphyseal Dysplasia 2

UniProtKB/Swiss-Prot genetic disease variations for Frontometaphyseal Dysplasia 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MAP3K7	p.Glu70Gln	VAR_077342	rs886039231
2	MAP3K7	p.Val100Glu	VAR_077343	rs886039232
3	MAP3K7	p.Gly168Arg	VAR_077345	rs886039233
4	MAP3K7	p.Pro512Leu	VAR_077347	rs886039230

ClinVar genetic disease variations for Frontometaphyseal Dysplasia 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MAP3K7	NM_145331.2(MAP3K7): c.1535C> T (p.Pro512Leu)	single nucleotide variant	Pathogenic	rs886039230	GRCh37	Chromosome 6, 91228271: 91228271
2	MAP3K7	NM_145331.2(MAP3K7): c.1535C> T (p.Pro512Leu)	single nucleotide variant	Pathogenic	rs886039230	GRCh38	Chromosome 6, 90518552: 90518552
3	MAP3K7	NM_145331.2(MAP3K7): c.208G> C (p.Glu70Gln)	single nucleotide variant	Pathogenic	rs886039231	GRCh37	Chromosome 6, 91281439: 91281439
4	MAP3K7	NM_145331.2(MAP3K7): c.208G> C (p.Glu70Gln)	single nucleotide variant	Pathogenic	rs886039231	GRCh38	Chromosome 6, 90571720: 90571720
5	MAP3K7	NM_145331.2(MAP3K7): c.299T> A (p.Val100Glu)	single nucleotide variant	Pathogenic	rs886039232	GRCh37	Chromosome 6, 91271385: 91271385
6	MAP3K7	NM_145331.2(MAP3K7): c.299T> A (p.Val100Glu)	single nucleotide variant	Pathogenic	rs886039232	GRCh38	Chromosome 6, 90561666: 90561666
7	MAP3K7	NM_145331.2(MAP3K7): c.502G> C (p.Gly168Arg)	single nucleotide variant	Pathogenic	rs886039233	GRCh37	Chromosome 6, 91266324: 91266324
8	MAP3K7	NM_145331.2(MAP3K7): c.502G> C (p.Gly168Arg)	single nucleotide variant	Pathogenic	rs886039233	GRCh38	Chromosome 6, 90556605: 90556605

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Expression for Frontometaphyseal Dysplasia 2

Search GEO for disease gene expression data for Frontometaphyseal Dysplasia 2.

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Pathways for Frontometaphyseal Dysplasia 2

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GO Terms for Frontometaphyseal Dysplasia 2

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Sources for Frontometaphyseal Dysplasia 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia