LRP1 gene related symptoms and diseases

All the information presented here about the LRP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LRP1 gene

Symptoms // Phenotype % Cases
Follicular hyperkeratosis Very Common - Between 80% and 100% cases
Scarring Very Common - Between 80% and 100% cases
Folliculitis Very Common - Between 80% and 100% cases
Alopecia Very Common - Between 80% and 100% cases
Erythema Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with LRP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Papule
  • Ichthyosis
  • Perifollicular fibrosis
  • Eczema
  • Hyperkeratosis
  • Not very common - Between 30% and 50% cases

  • Absent eyebrow
  • Alopecia of scalp
  • Dystrophic fingernails

And 48 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LRP1 gene

Here you will find a list of rare diseases related to the LRP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ULERYTHEMA OPHRYOGENESIS


Description

Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Most common symptoms of ULERYTHEMA OPHRYOGENESIS

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


More info about ULERYTHEMA OPHRYOGENESIS

SOURCES: ORPHANET OMIM

KERATOSIS FOLLICULARIS SPINULOSA DECALVANS


Alternate names

KERATOSIS FOLLICULARIS SPINULOSA DECALVANS Is also known as keratosis follicularis spinulosa decalvans cum ophiasi

Description

Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.

Most common symptoms of KERATOSIS FOLLICULARIS SPINULOSA DECALVANS

  • Myopia
  • Alopecia
  • Hyperkeratosis
  • Photophobia
  • Scarring


More info about KERATOSIS FOLLICULARIS SPINULOSA DECALVANS

SOURCES: OMIM MESH ORPHANET

ATROPHODERMA VERMICULATA


Alternate names

ATROPHODERMA VERMICULATA Is also known as atrophodermia reticulata symmetrica faciei, folliculitis ulerythematosa reticulate, honeycomb atrophy, folliculitis ulerythematosa reticulata, atrophodermia vermiculata

Description

Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).

Most common symptoms of ATROPHODERMA VERMICULATA

  • Edema
  • Dilatation
  • Alopecia
  • Hyperkeratosis
  • Erythema


More info about ATROPHODERMA VERMICULATA

SOURCES: ORPHANET OMIM


Potential gene panels for LRP1 gene

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2

More info about this panel

LRP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRP1 gene.

More info about this panel


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