Arthritis, and Spinal muscular atrophy

Diseases related with Arthritis and Spinal muscular atrophy

In the following list you will find some of the most common rare diseases related to Arthritis and Spinal muscular atrophy that can help you solving undiagnosed cases.


Top matches:

Low match ULERYTHEMA OPHRYOGENESIS


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.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match LEGG-CALVÉ-PERTHES DISEASE


Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

LEGG-CALVÉ-PERTHES DISEASE Is also known as legg-perthes disease|osteochondrosis of the capital femoral epiphysis|perthes disease|aseptic necrosis of the capital femoral epiphysis|lcp|osteochondritis of the capital femoral epiphysis

Related symptoms:

  • Short stature
  • Pain
  • Skeletal muscle atrophy
  • Abnormality of the dentition
  • Depressivity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGG-CALVÉ-PERTHES DISEASE

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MELORHEOSTOSIS


Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Top 5 symptoms//phenotypes associated to Arthritis and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Sensorineural hearing impairment Hearing impairment Flexion contracture Hypertension Skeletal dysplasia Joint stiffness Bone pain Osteoarthritis Growth abnormality Hoarse voice Arrhythmia Scarring

Rare Symptoms - Less than 30% cases


Gait disturbance Nevus Failure to thrive Congestive heart failure Intellectual disability, mild Hepatosplenomegaly Prominent nose Clubbing of fingers Edema Muscular hypotonia Lymphedema Osteopoikilosis Abnormal aortic morphology Intellectual disability Myalgia Hemangioma Renal insufficiency Hyperostosis Recurrent infections Strabismus Abnormality of the foot Joint swelling Atypical scarring of skin Scleroderma Frontal bossing Areflexia Lower limb asymmetry Erythema Papule Abnormality of the dentition Delayed skeletal maturation Hepatomegaly Adipose tissue loss Abnormality of mucopolysaccharide metabolism Increased urinary hypoxanthine Thoracolumbar kyphosis Wrist flexion contracture Mucopolysacchariduria Hyperuricosuria Flared nostrils Expressive language delay High-frequency hearing impairment Thenar muscle atrophy Obstructive lung disease Heparan sulfate excretion in urine Functional motor deficit Dermatan sulfate excretion in urine Papilledema Gout Tonsillitis Recurrent upper and lower respiratory tract infections Incisional hernia Restricted chest movement Abnormality of nasopharyngeal adenoids Abnormality of the Eustachian tube Ridged cranial sutures Arnold-Chiari type I malformation Seizures Anemia Fever Abnormality of the skull Protuberant abdomen Hyperuricemia Pectus carinatum Wide nasal bridge Macrocephaly Short neck Abnormality of skeletal muscles Ataxia Inguinal hernia Mandibular prognathia Coarse facial features Umbilical hernia Motor delay Conductive hearing impairment Postnatal growth retardation Hirsutism Rhinitis Full cheeks Urinary incontinence Excessive purine production Abnormality of the skin Otitis media Abnormality of the cardiovascular system Thickened skin Widely spaced teeth Prominent supraorbital ridges Multiple joint contractures Bowel incontinence Short finger Abnormal heart valve morphology Splenomegaly Hypotelorism Finger swelling Epicanthus Rimmed vacuoles Myositis Abnormally large globe Immune dysregulation Generalized lipodystrophy Dysmetria Flexion contracture of toe Abnormality of eye movement Hypermetropia Generalized hypotonia Hypochromic anemia Neurological speech impairment Erythema nodosum Peripheral axonal neuropathy Panniculitis Wide mouth Abnormality of the nervous system Hyperactivity Diabetes mellitus Global developmental delay Episcleritis Prominent forehead Stiff skin Pneumonia Hypertonia Cardiomyopathy Basal ganglia calcification Microcytic anemia Convex nasal ridge Macroglossia Triangular face Growth delay Babinski sign Hyperhidrosis Macrotia Osteopenia Elevated hepatic transaminase Abnormality of the liver Camptodactyly of finger Skin rash Lymphadenopathy Inability to walk Cardiomegaly Elevated erythrocyte sedimentation rate Thick lower lip vermilion Hypertriglyceridemia Hyperpigmentation of the skin Lymphopenia Elbow flexion contracture Conjunctivitis Lipodystrophy Glucose intolerance Increased antibody level in blood Quadricuspid aortic valve Polyneuropathy Long fingers Hypermelanotic macule Thrombocytopenia Spina bifida Premature arteriosclerosis Abnormal facial shape Abnormality of the skeletal system Dilatation Increased bone mineral density Cranial nerve paralysis Dermal atrophy Abnormality of the vasculature Lack of skin elasticity Prominent superficial veins Chronic pain Upper limb asymmetry Peripheral arteriovenous fistula Subcutaneous calcification Ectopic ossification in muscle tissue Depressed nasal bridge Progressive peripheral neuropathy Brachydactyly Midface retrusion Severe short stature Hyperlordosis Waddling gait Lumbar hyperlordosis Short thumb Accelerated skeletal maturation Back pain Mild short stature Broad hallux Limited elbow extension Disproportionate short stature Vocal cord paresis Mildly elevated creatine phosphokinase Exostoses Comedo Alopecia Hypotrichosis Ichthyosis Inflammatory abnormality of the skin Sparse eyebrow Epiphora Aplasia/Hypoplasia of the skin Atopic dermatitis Absent eyelashes Abnormal eyebrow morphology Follicular hyperkeratosis Folliculitis Sunken cheeks Distal amyotrophy Abnormal perifollicular morphology Depressivity Congenital hip dislocation Joint dislocation Hyperkinesis Aseptic necrosis Avascular necrosis of the capital femoral epiphysis Synovitis Cartilage destruction Tremor Dysphagia Myopathy Hyporeflexia Distal muscle weakness Proportionate short stature Abnormality of tibia morphology Ambiguous genitalia, female Psoriasiform dermatitis Bruising susceptibility Sensory neuropathy Single transverse palmar crease Bifid uvula Vesicoureteral reflux Gastrointestinal hemorrhage Mitral valve prolapse Ambiguous genitalia Thin skin Pectus excavatum Spina bifida occulta Hyperextensible skin Rheumatoid arthritis Unilateral renal agenesis Arachnodactyly Atrophic scars Soft skin Adrenal hypoplasia Hiatus hernia Adrenal hyperplasia Proximal amyotrophy Bicornuate uterus Precocious atherosclerosis Increased connective tissue Muscle fiber splitting Poor wound healing Rectal prolapse Arteriosclerosis Congenital adrenal hyperplasia Joint hypermobility Joint hyperflexibility Abnormality of the knee Flat occiput Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Visual impairment Craniosynostosis Palmoplantar keratoderma Recurrent fractures Abnormality of the metaphysis Subcutaneous nodule Abnormality of epiphysis morphology Multiple lipomas Stroke Cutaneous finger syndactyly Generalized hypopigmentation Abnormal cortical bone morphology Generalized osteosclerosis Generalized limb muscle atrophy Abnormal bone structure Connective tissue nevi Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Fatigue Hernia Proximal muscle weakness Joint laxity Uric acid nephrolithiasis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Myeloid leukemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more