MFHIEN
MCID: MDF002
MIFTS: 23

Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis (MFHIEN)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

MalaCards integrated aliases for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

Name: Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 56 12 73 36 29 6
Mfhien 56 12 73

Characteristics:

OMIM:

56
Miscellaneous:
onset in infancy
four patients from 2 unrelated families have been reported (last curated january 2017)
carrier females are unaffected

Inheritance:
x-linked recessive


HPO:

31
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

KEGG : 36 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is a X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex).

MalaCards based summary : Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis, is also known as mfhien. An important gene associated with Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis is AMMECR1 (AMMECR Nuclear Protein 1). Related phenotypes are cataract and anemia

Disease Ontology : 12 A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has material basis in hemizygous mutation in AMMECR1 on chromosome Xq23.

OMIM : 56 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017). (300990)

UniProtKB/Swiss-Prot : 73 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis: An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay.

Related Diseases for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Symptoms & Phenotypes for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Human phenotypes related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 anemia 31 very rare (1%) HP:0001903
3 generalized hypotonia 31 very rare (1%) HP:0001290
4 renal dysplasia 31 very rare (1%) HP:0000110
5 patent foramen ovale 31 very rare (1%) HP:0001655
6 intellectual disability 31 HP:0001249
7 short neck 31 HP:0000470
8 pes planus 31 HP:0001763
9 sensorineural hearing impairment 31 HP:0000407
10 short stature 31 HP:0004322
11 flat face 31 HP:0012368
12 narrow mouth 31 HP:0000160
13 micrognathia 31 HP:0000347
14 dental crowding 31 HP:0000678
15 joint hypermobility 31 HP:0001382
16 downslanted palpebral fissures 31 HP:0000494
17 delayed eruption of teeth 31 HP:0000684
18 clinodactyly of the 5th finger 31 HP:0004209
19 talipes 31 HP:0001883
20 nephrocalcinosis 31 HP:0000121
21 thin upper lip vermilion 31 HP:0000219
22 hypercalciuria 31 HP:0002150
23 large forehead 31 HP:0002003
24 broad forehead 31 HP:0000337
25 midface retrusion 31 HP:0011800
26 bifid uvula 31 HP:0000193
27 mixed hearing impairment 31 HP:0000410
28 esotropia 31 HP:0000565
29 broad distal phalanx of finger 31 HP:0009836
30 elliptocytosis 31 HP:0004445

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Eyes:
strabismus
esotropia
downslanting palpebral fissures
cataracts (1 patient)

Head And Neck Face:
flat face
micrognathia
large forehead
midface hypoplasia

Skeletal Feet:
talipes
flat feet

Skeletal Hands:
fifth finger clinodactyly
square hands
broad distal phalanges
lateral deviation of the fingers

Head And Neck Ears:
hearing loss, conductive
hearing loss, sensorineural
hearing loss, mixed

Cardiovascular Heart:
patent foramen ovale (in some patients)

Muscle Soft Tissue:
hypotonia (1 patient)

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
bifid uvula
thin upper lip
small mouth

Skeletal:
joint hypermobility

Hematology:
elliptocytosis
anemia (in some patients)

Head And Neck Teeth:
delayed tooth eruption
crowded teeth

Neurologic Central Nervous System:
normal cognition
early motor delay, mild
early language delay, mild

Genitourinary Kidneys:
nephrocalcinosis, mild
renal dysplasia (1 patient)

Laboratory Abnormalities:
hypercalciuria, intermittent

Clinical features from OMIM:

300990

Drugs & Therapeutics for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Search Clinical Trials , NIH Clinical Center for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis

Genetic Tests for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Genetic tests related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

# Genetic test Affiliating Genes
1 Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis 29 AMMECR1

Anatomical Context for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Publications for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Articles related to Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

# Title Authors PMID Year
1
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 56 6
27811305 2017
2
Corrigendum to "X-linked elliptocytosis with impaired growth is related to mutated AMMECR1" [Gene 606C (2017) 47-52]. 6
29174631 2018
3
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. 56
28089922 2017

Variations for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

ClinVar genetic disease variations for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMMECR1 NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter)SNV Pathogenic 446130 rs765498367 X:109560871-109560871 X:110317643-110317643
2 AMMECR1 , RTL9 NC_000023.11:g.110250890_110665082deldeletion Pathogenic 446219 X:110250890-110665082
3 AMMECR1 NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp)SNV Pathogenic 375304 rs1057519337 X:109507771-109507771 X:110264543-110264543
4 AMMECR1 NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter)SNV Pathogenic 375305 rs1057519338 X:109507799-109507799 X:110264571-110264571
5 AMMECR1 t(X;9)(q23;q12)dnTranslocation Likely pathogenic 592175
6 AMMECR1 , TMEM164 duplication Uncertain significance 560072 X:109412385-109552503

UniProtKB/Swiss-Prot genetic disease variations for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis:

73
# Symbol AA change Variation ID SNP ID
1 AMMECR1 p.Gly177Asp VAR_078027 rs105751933

Expression for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Search GEO for disease gene expression data for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis.

Pathways for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

GO Terms for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

Sources for Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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