MFHIEN
MCID: MDF002
MIFTS: 18

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 57 75 6
Mfhien 57 75

Characteristics:

OMIM:

57
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:

32
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...

UniProtKB/Swiss-Prot : 75 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.

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 (Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1). Related phenotypes are intellectual disability and cataract

OMIM : 57 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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

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

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

Skeletal Feet:
talipes
flat feet

Skeletal Hands:
fifth finger clinodactyly
broad distal phalanges
square hands
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 Face:
micrognathia
flat face
large forehead
midface hypoplasia

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

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

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 cataract 32 very rare (1%) HP:0000518
3 pes planus 32 HP:0001763
4 sensorineural hearing impairment 32 HP:0000407
5 anemia 32 very rare (1%) HP:0001903
6 cleft palate 32 HP:0000175
7 micrognathia 32 HP:0000347
8 delayed eruption of teeth 32 HP:0000684
9 flat face 32 HP:0012368
10 hypercalciuria 32 HP:0002150
11 broad forehead 32 HP:0000337
12 clinodactyly of the 5th finger 32 HP:0004209
13 dental crowding 32 HP:0000678
14 downslanted palpebral fissures 32 HP:0000494
15 narrow mouth 32 HP:0000160
16 nephrocalcinosis 32 HP:0000121
17 thin upper lip vermilion 32 HP:0000219
18 large forehead 32 HP:0002003
19 midface retrusion 32 HP:0011800
20 talipes 32 HP:0001883
21 bifid uvula 32 HP:0000193
22 broad distal phalanx of finger 32 HP:0009836
23 esotropia 32 HP:0000565
24 renal dysplasia 32 very rare (1%) HP:0000110
25 mixed hearing impairment 32 HP:0000410
26 elliptocytosis 32 HP:0004445

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...

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

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 AMMECR1 p.Gly177Asp VAR_078027 rs105751933

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMMECR1 NM_015365.2(AMMECR1): c.530G> A (p.Gly177Asp) single nucleotide variant Pathogenic rs1057519337 GRCh38 Chromosome X, 110264543: 110264543
2 AMMECR1 NM_015365.2(AMMECR1): c.530G> A (p.Gly177Asp) single nucleotide variant Pathogenic rs1057519337 GRCh37 Chromosome X, 109507771: 109507771
3 AMMECR1 NM_015365.2(AMMECR1): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs1057519338 GRCh38 Chromosome X, 110264571: 110264571
4 AMMECR1 NM_015365.2(AMMECR1): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs1057519338 GRCh37 Chromosome X, 109507799: 109507799
5 AMMECR1 NM_015365.2(AMMECR1): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs765498367 GRCh37 Chromosome X, 109560871: 109560871
6 AMMECR1 NM_015365.2(AMMECR1): c.429T> A (p.Tyr143Ter) single nucleotide variant Pathogenic rs765498367 GRCh38 Chromosome X, 110317643: 110317643
7 AMMECR1; RTL9 NC_000023.11: g.110250890_110665082del deletion Pathogenic GRCh38 Chromosome X, 110250890: 110665082
8 AMMECR1; TMEM164 NC_000023.10: g.109412385_109552503dup duplication Uncertain significance GRCh37 Chromosome X, 109412385: 109552503

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...

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17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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