POIKTMP
MCID: PKL002
MIFTS: 30

Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

MalaCards integrated aliases for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

Name: Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 58 54 76 38 30 6 74
Poiktmp 58 25 54 26 76
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 25 54 26
Hereditary Sclerosing Poikiloderma with Tendon and Pulmonary Involvement 54 26 76
Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome 54 60
Poiktmp Syndrome 54 60
Poikiloderma, Hereditary Fibrosing, Tendon Contractures, Myopathy, Pulmonary Fibrosis 41
Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement 58
Hfp 26

Characteristics:

Orphanet epidemiological data:

60
hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
patients require achilles tendon lengthening in first or second decade of life


HPO:

33
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance To our knowledge, the penetrance of poiktmp is 100% with occurrence of skin features in early childhood...

Classifications:



Summaries for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 221043Disease definitionHereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.Visit the Orphanet disease page for more resources.

MalaCards based summary : Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis, also known as poiktmp, is related to muscle disorders and pulmonary fibrosis. An important gene associated with Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis is FAM111B (Family With Sequence Similarity 111 Member B). Affiliated tissues include skin, pancreas and skeletal muscle, and related phenotypes are scoliosis and cataract

Genetics Home Reference : 26 Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.

OMIM : 58 Poikiloderma, characterized by mottled pigmentation, telangiectasia, and epidermal atrophy, can be accompanied by tendon contractures, myopathy, and progressive pulmonary fibrosis. Clinical manifestations include poikiloderma from early childhood with telangiectasia and pigmentary anomalies on sun-exposed areas, tendon contractures that tend to involve the ankles and feet with gait disturbances, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. Additional features include heat intolerance, reduced sweating, and thin hair (summary by Mercier et al., 2013). (615704)

UniProtKB/Swiss-Prot : 76 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis: An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function.

Wikipedia : 77 Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis is a rare... more...

GeneReviews: NBK390610

Related Diseases for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscle disorders 10.3
2 pulmonary fibrosis 10.3
3 myopathy 10.3
4 isolated optic neuritis 10.3
5 ichthyosis prematurity syndrome 10.1
6 priapism 10.1

Graphical network of the top 20 diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:



Diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Symptoms & Phenotypes for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Human phenotypes related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 occasional (7.5%) HP:0002650
2 cataract 33 occasional (7.5%) HP:0000518
3 delayed puberty 33 occasional (7.5%) HP:0000823
4 nail dysplasia 33 occasional (7.5%) HP:0002164
5 erysipelas 33 occasional (7.5%) HP:0001055
6 muscle weakness 33 HP:0001324
7 hepatomegaly 33 HP:0002240
8 pulmonary fibrosis 33 HP:0002206
9 skeletal muscle atrophy 33 HP:0003202
10 hypohidrosis 33 HP:0000966
11 alopecia 33 HP:0001596
12 poikiloderma 33 HP:0001029
13 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle wasting
contractures of distal lower limbs
contractures of upper limbs (in some patients)
muscle weakness of proximal and distal upper and lower limbs
myogenic profile on electromyography
more
Laboratory Abnormalities:
elevated serum creatine kinase

Head And Neck Eyes:
cataract (rare)
eyebrows sparse or absent
eyelashes sparse or absent

Growth Height:
growth retardation (in some patients)

Head And Neck Head:
scalp hair sparse or absent

Abdomen Pancreas:
fatty infiltration of pancreas (rare)

Skin Nails Hair Skin Histology:
atrophy of epidermis
enlarged and fragmented elastic fibers
elastic globules in papillary dermis
diffuse collagen sclerosis

Skin Nails Hair Hair:
hypotrichosis and/or alopecia, primarily involving scalp hair, eyebrows, and eyelashes

Skeletal Spine:
scoliosis (in some patients)

Respiratory Lung:
interstitial pulmonary fibrosis
restrictive syndrome

Endocrine Features:
delayed puberty (in some patients)

Abdomen Liver:
hepatomegaly (rare)

Head And Neck Face:
poikiloderma, congenital

Skin Nails Hair Skin:
congenital poikiloderma on face and exposed skin
telangiectatic lesions
hypohidrosis and/or heat intolerance
eczema-like lesions (in some patients)
erysipelas (in some patients)
more
Skin Nails Hair Nails:
nail dysplasia (rare)

Clinical features from OMIM:

615704

Drugs & Therapeutics for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Search Clinical Trials , NIH Clinical Center for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Genetic Tests for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Genetic tests related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

# Genetic test Affiliating Genes
1 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 30 FAM111B

Anatomical Context for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

MalaCards organs/tissues related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

42
Skin, Pancreas, Skeletal Muscle

Publications for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Articles related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

# Title Authors Year
1
Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (poiktmp): a case series of 28 patients. ( 30972747 )
2019
2
A case of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) with the emphasis on cutaneous histopathological findings. ( 29578632 )
2018
3
Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma. ( 28349113 )
2017
4
CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). ( 26443268 )
2016
5
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. ( 26471370 )
2015
6
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. ( 24268661 )
2013
7
Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? ( 17034542 )
2006

Variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

UniProtKB/Swiss-Prot genetic disease variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

76
# Symbol AA change Variation ID SNP ID
1 FAM111B p.Tyr621Asp VAR_070953 rs587777236
2 FAM111B p.Arg627Gly VAR_070954 rs587777237
3 FAM111B p.Ser628Asn VAR_070955 rs587777238

ClinVar genetic disease variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM111B NM_198947.3(FAM111B): c.1861T> G (p.Tyr621Asp) single nucleotide variant Pathogenic rs587777236 GRCh38 Chromosome 11, 59125958: 59125958
2 FAM111B NM_198947.3(FAM111B): c.1861T> G (p.Tyr621Asp) single nucleotide variant Pathogenic rs587777236 GRCh37 Chromosome 11, 58893431: 58893431
3 FAM111B NM_198947.3(FAM111B): c.1879A> G (p.Arg627Gly) single nucleotide variant Pathogenic rs587777237 GRCh38 Chromosome 11, 59125976: 59125976
4 FAM111B NM_198947.3(FAM111B): c.1879A> G (p.Arg627Gly) single nucleotide variant Pathogenic rs587777237 GRCh37 Chromosome 11, 58893449: 58893449
5 FAM111B NM_198947.3(FAM111B): c.1883G> A (p.Ser628Asn) single nucleotide variant Pathogenic rs587777238 GRCh38 Chromosome 11, 59125980: 59125980
6 FAM111B NM_198947.3(FAM111B): c.1883G> A (p.Ser628Asn) single nucleotide variant Pathogenic rs587777238 GRCh37 Chromosome 11, 58893453: 58893453
7 FAM111B NM_198947.3(FAM111B): c.1261_1263delAAG (p.Lys421del) deletion Pathogenic rs886039851 GRCh37 Chromosome 11, 58892831: 58892833
8 FAM111B NM_198947.3(FAM111B): c.1261_1263delAAG (p.Lys421del) deletion Pathogenic rs886039851 GRCh38 Chromosome 11, 59125358: 59125360
9 FAM111B NM_198947.3(FAM111B): c.1289A> C (p.Gln430Pro) single nucleotide variant Pathogenic rs551644836 GRCh37 Chromosome 11, 58892859: 58892859
10 FAM111B NM_198947.3(FAM111B): c.1289A> C (p.Gln430Pro) single nucleotide variant Pathogenic rs551644836 GRCh38 Chromosome 11, 59125386: 59125386
11 FAM111B NM_198947.3(FAM111B): c.1874C> A (p.Thr625Asn) single nucleotide variant Pathogenic rs886039852 GRCh37 Chromosome 11, 58893444: 58893444
12 FAM111B NM_198947.3(FAM111B): c.1874C> A (p.Thr625Asn) single nucleotide variant Pathogenic rs886039852 GRCh38 Chromosome 11, 59125971: 59125971

Expression for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Search GEO for disease gene expression data for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis.

Pathways for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

GO Terms for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

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